New Gene Mutations
We have provided a listing of new mutations available. The newest mutations are at the top.
The link under the mutation symbol provides an article describing the origin and description, pathology and genetic analysis of the mutation. The link under gene symbol takes you to gene information in the MGI database.
|
Mutation Symbol |
Mutation Name |
Gene Symbol |
Phenotype | Chr |
| m1J | mutation 1 Jackson | Arsb | craniofacial, skeletal, neurological, hearing | 13 |
| ttrr | totterer | Mpz | neuromuscular | 1 |
| scm-3J | scrambler 3 Jackson | Dab1 | neurological/behavioral; abnormal motor capabilities/coordination/movement/balance/physical strength: | 4 |
| dy-8J | dystrophia muscularis 8 Jackson | Lama2 | neuromuscular | 10 |
| chky | chick yellow | coat color/eye | 3 | |
| hstp | high stepper | neurological/eye | 19 | |
| sr-2J | Spinner 2 Jackson | Tmie | neurological/behavioral: motor capabilities/coordination/movement anomalies/deafness/circling | 9 |
| dfcr-3J | Deaf circler 3 Jackson | Ush1c | neurological/behavioral: motor capabilities/coordination/movement anomalies/deafness/circling | 7 |
| ru-8J | ruby-eye 8 Jackson | Hps6 | coat color | 19 |
| slck | slick hair | hair and skin | 1 | |
| rhg |
retarded hair growth |
hair and eye | 7 | |
| wa3-J | waved 3 Jackson | Ppp1r13l |
Hair and eye abnormalities and congestive heart failure |
7 |
| cfe-se7J | cauliflower ear-short ear 7 Jackson | Bmp5 | ear | 9 |
| cfe-se8J | cauliflower ear-short ear 8 Jackson | Bmp5 | ear | 9 |
| whe | white eyes | eye | 11 | |
| frg | froggy | body size and skull shape | 13 | |
| hyrh | hydrocephalus and rhinitis | craniofacial | 8 | |
| stn | stunted | craniofacial, coat color | 19 | |
| He | Helicopter Ears | craniofacial,skeletal, | 4 | |
| ne | No Eyelid | eye, skeleton, coat color, kidney | 3 | |
| shk | sharkey | Sostdc1 | teeth and hearing | 12 |
| Sofa | Short face | craniofacial | 11 | |
| rl-8J | reeler 8 Jackson | Reln | neurological | 5 |
| thnh | thin hair | skin and hair | 9 | |
| bdd | bulging disc disease | skeletal | 2 | |
| Trl | Trembler-like | neurological | 11 | |
| trls-2J | tremor and reduced lifespan 2 Jackson | neurological | 10 | |
| agil-2J |
agitans-like 2 Jackson |
neurological | 14 | |
| twi-5J | twitcher 5 Jackson | Galc | neurological | 12 |
| Mfs | mutant fur is striped | skin and hair | 13 | |
| fsq | flying squirrel | neurological | 10 | |
| dkd | darkened dorsal | skin and hair | 2 | |
| lgj-4J | longjohn 4 Jackson | Npr3 | skeletal/limbs | 15 |
| qv-10J and qv-11J | quivering 10 Jackson and quivering 11 Jackson | Spnb4 | neurological | 7 |
| sky | severe kyphosis | skeleton, limbs | 14 | |
| v-11J | waltzer 11 Jackson | Cdh23 | neurological/behavioral: motor capabilities/coordination/movement anomalies/deafness/circling | 10 |
| sv-4J | Snell's waltzer 4 Jackson | Myo6 | neurological/behavioral: motor capabilities/coordination/movement anomalies/deafness/circling | 9 |
| del-J | Pou3f4 deletion Jackson | Pou3f4 | behavior/neurological/hearing/vestibular/ear phenotype | X |
| myo-9J | myotonia 9 Jackson | Clcn1 | neurological | 6 |
| ru-7J | ruby-eye 7 Jackson | Hps6 | coat color | 19 |
| rl-4J | reeler 4 Jackson | Reln | size, neurological | 5 |
| pcd-8J | Purkinje cell degeneration 8 Jackson | Agtpbp1 | neurological | 13 |
| wa1l | waved 1-like | skin and hair | 6 | |
| lgj-3J | longjohn 3 Jackson | Npr3 | skeleton/limbs | 15 |
| Bad hair day | skin and hair | X | ||
|
Dreher 10 Jackson Dreher 11 Jackson |
Lmxla | circling/hearing loss/head toss | 1 | |
| ssl | small swaying lethal | neurological | 6 | |
| rl-7J | reeler 7 Jackson | Reln | neurological | 5 |
| tnyw | tiny wasting | size, neurological | 3 | |
| coa-8J | cocoa 8 Jackson | Hps3 | coat color | 3 |
| ru2l | ruby eye 2-like | Hps5 | coat color | 7 |
| Dwh | Dispersed white hair | coat color | 2 | |
| Xls | X-linked stripe | coat color | X | |
| pdsm | Pendred Syndrome model | Slc26a4 | neurological/behavioral: motor capabilities/coordination/movement anomalies/deafness/head bobbing | 12 |
| lh-4J | lethargic 4 Jackson | Cacnb4lh | neurological | 2 |
| Sl-23J | Steel 23 Jackson | Kitl | coat color and belly spot | 10 |
| Bolt | lightning bolt tail | skeletal | 11 | |
| frzl | frizzy-like | hair | 7 | |
| Sl-22J | Steel 22 Jackson | Kitl | coat color and belly spot | 10 |
| Vss | Variable spot and size | color, size | 2 | |
| coa-7J | cocoa 7 Jackson | Hps3 | coat color | 3 |
| fold | follicular dystrophy | skin and hair | 2 | |
| js-2J | Jackson shaker 2 Jackson | Ush1g | neurological/behavioral: motor capabilities/coordination/movement anomalies/deafness/head bobbing | 11 |
| vtg-4J | vertigo 4 Jackson | Kcnq1 | neurological/behavioral: motor capabilities/coordination/movement anomalies/deafness/head bobbing | 7 |
| Wtgr | Wavy tiger | skin and hair | X | |
| Dfb | Deaf ballerina | neurological/behavioral | 4 | |
| sunk | sunken | skeletal | 14 | |
| sevr | severe runting | size, skeletal | 18 | |
| shi-J | shiverer Jackson | Mbp | neurological | 18 |
| sv-2J | Snell's waltzer 2 Jackson | Myo6 | circling, head-bobbing, deafness | 9 |
| Shar | shiny and rough | skin and hair | 15 | |
| sl-21J | steel 21 Jackson | Kitl | coat color | 10 |
| bg-16J | beige 16 Jackson | Lyst | coat color | 13 |
| Xsl | extra-toes spotting-like | skeletal, color spotting | 7 | |
| rslk-2J | recessive spotting-like 2 Jackson | coat color, spotting | 5 | |
| rcw-4J | recoil wobbler 4 Jackson | Grm1 | neurological | 10 |
| uwl | underwhite-like |
(unproven) |
coat color | 15 |
| pe-16J | Pearl 16 Jackson | Ap3b1 | coat color | 13 |
| pe-15J | Pearl 15 Jackson | Ap3b1 | coat color | 13 |
| trls | tremor and reduced lifespan | neurological | 10 | |
| stpm | short term perm | Hair | 11 | |
| calre | caracul-like recessive |
Krt71 (unproven) |
Hair, curly coat | 15 |
| rslk | recessive spotting-like | coat color, spotting | 5 | |
| chtl-2J | chocolate-like 2 Jackson |
(unproven) |
coat color | 7 |
| v-7J | waltzer 7 Jackson | cdh23 | circling, hearing loss, head tossing | 10 |
| rcw-3J | recoil wobbler 3 Jackson | Grm1 | neurological | 10 |
| rl-5J | reeler 5 Jackson | Reln | neurological | 5 |
| shmy-2J | shimmy 2 Jackson |
neurological | 14 | |
| shmy-3J | shimmy 3 Jackson | neurological | 14 | |
| pcd-7J | Purkinje cell degeneration 7 Jackson | Agtpbp1 | neurological | 13 |
| pe-14J | pearl 14 Jackson | Ap3b1 | coat color | 13 |
| qk-2J | Quaking 2 Jackson | QK | neurological | 17 |
| sh2-3J | shaker 2 3 Jackson | Myo15 | neurological/behavioral:motor capabilities/coordination/movement anomalies/ deafness/ head bobbing | 11 |
| rul | ruffled | hair | 13 | |
| Pe-13J | pearl 13 Jackson | Ap3b1 | coat color | 13 |
| Cal7 | caracul-like 7 |
Krt71 (unproven) |
Hair, curly coat | 15 |
| sfx-2J |
spontaneous fracture 2 Jackson |
Gulo | skeletal | 14 |
| ho-15J | hotfoot 15 Jackson | Grid2 | neurological/behavioral: motor capabilities/coordination/movement anomalies | 6 |
| awag | ages with abnormal gait | neurological/behavioral: motor capabilities/coordination/movement anomalies | 2 | |
| rcw-2J | recoil wobbler 2 Jackson | Grm1 | neurological | 10 |
| Cal6 | caracul-like 6 |
Krt71 (unproven) |
Hair, curly coat | 15 |
| med-jo-2J | jolting 2 Jackson | Scn8a | neurological/behavioral: motor capabilities/coordination/movement anomalies | 15 |
| tth | tremor with tilted head | neurological/behavioral: motor capabilities/coordination/movement anomalies | 15 | |
| Sls |
Semidominant lethal spotting |
(unproven) |
color spotting, homozygous lethality at weaning age | 2 |
| pu-J | pudgy Jackson | D113 | tail, skeleton | 7 |
| ctl | curly tail-like | skeletal | 4 | |
| Cal4 | caracul-like 4 |
(unproven) |
Hair, curly coat | 15 |
| Cal5 | caracul-like 5 |
(unproven) |
Hair, curly coat | 15 |
| Mo-pew-3J | pewter 3 Jackson | Atp7a | coat color, neurological | X |
| baw | black and white | coat color | 18 | |
| dal | dark-like | coat color, size, skeletal, metabolic | 7 | |
| lh-3J | lethargic 3 Jackson | Cacnb4lh | neurological | 2 |
| agil | agitans-like | neurological | 14 | |
| av-jfb | Ames waltzer James F Battey | Pcdh15 | circling,head-bobbing, deafness | 10 |
| chtl | chocolate-like |
Rab38 (unproven) |
coat color | 7 |
| cn2J | achondroplasia 2 Jackson | Npr2 | skeletal defects | 4 |
| ld-3J | limb deformity 3 Jackson | Grem1 | skeletal defects, limbs | 2 |
| gaxp | giant axonopathy | neuromuscular | 2 | |
| hslt | head slant | Noxo1 | balance deficit | 17 |
|
hemimelic extra toes-like hemimelic extra toes-like 2 |
skeleton, limbs, toes | 5 | ||
| ingls | infantile gliosis | neurological, gliosis, hydrocephalus | 8 | |
| jgl | jagged tail-like | skeletal, tail, reproductive tract abnormalities | 5 | |
| jv | Jackson waltzer | otx1 | circling, head bobbing | 11 |
| lbab | long bone abnormality | size, skeletal, limbs | 1 | |
| lew | lethal wasting | failure to thrive | 6 | |
| Lxl2 | luxate-like 2 | limbs | 5 | |
| mdig | malformed digits | Lrp4 | skeleton, digits | 2 |
| pcd-5J | Purkinje cell degeneration 5 Jackson | Agtpbp1 | neurological | 13 |
|
rabbit rabbit 2 Jackson |
Epha4 |
neurological/behavioral: motor capabilities/coordination/movement anomalies |
1 | |
| rcw | recoil wobbler | Grm1 | neurological/behavioral | 10 |
| snol | snubnose-like | craniofacial, skeletal, tail | 4 | |
| twit | neurological, survival | 14 | ||
| vtg-2J | vertigo 2 Jackson | Kcnq1 | Head tossing/bobbing, deafness | 7 |
| wdl | waddles | Car8 | abnormal movement | 4 |
| Whll | wheels-like | moderate circler, mild hearing impairment | 4 | |
| wly | wooly | hair texture | 11 |
