New Gene Mutations

Mutation Symbol

 Mutation Name

 Gene  Symbol

 Phenotype Class

Chr 
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

Bhrd

Bad hair day skin and hair X

dr-10J 

dr-11J

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

 Slc45a2 

(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 

 Rab38

(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

Edn3

(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 

Krt71

(unproven)

Hair, curly coat 15
Cal5 caracul-like 5

Krt71

(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  Fmn1 skeletal defects, limbs     2
gaxp giant axonopathy   neuromuscular  2
hslt head slant Noxo1 balance deficit 17

Hxl

Hxl2

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

rb

rb-2J

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 twitter   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