Spontaneous mutations characterized by the MMR

Links provided take you to the Mouse Genome Informatics database.

Gene/Allele Symbol

Allele Name

ank

progressive ankylosis

Ap3b1<pe>

pearl

Ap3d<mh>

mocha

Ar<Tfm>

testicular feminization

Atp7a<Mo-br>

brindled

Atp7b<tx-J>

toxic milk Jackson

Cacna1a<tg>

tottering

Cacnb4<lh>

lethargic

Cdh23<v-2J>

waltzer 2 Jackson

Chx10<or-J>

ocular retardation Jackson

Clcn1<adr-mto>

myotonia

Cln6<nclf>

neuronal ceroid lipofuscinosis

Col1a2<oim>

osteogenesis imperfecta

Col2a1<sed>

spondyloepiphyseal dysplasia

Cryaa<lop18>

lens opacity 18

Dll3<pu>

pudgy

Dsg3<bal>

balding

Eda<Ta>

tabby

Edar<dl-J>

downless Jackson

Edaradd<cr>

crinkled

Edn3<ls>

lethal spotting

Ednrb<s>

piebald

Eya1<bor>

branchio otorenal syndrome

Fbn1<tsk>

tight skin

Fbxw4<Dac>

dactylaplasia

Foxc1<ch>

congenital hydrocephalus

Foxn1<nu-str>

nude streaker

Galc<twi>

twitcher

Gdf5<bp-J>

brachypodism Jackson

Ghrhr<lit>

little

Gli3<Xt-J>

extra toes Jackson

Glra1<spd>

spasmodic

Gnrh<hpg>

hypogonadal

Gus<mps>

mucopolysacchiridosis VII

Hbb<s>

s allele; [hemoglobin single]

Hcph<me>

motheaten

Hoxa13<Hd>

hypodactyly

Hoxd13<spdh>

synpolydactyly homolog

Hps1<ep>

pale ear

Hps3<coa>

cocoa

hr

hairless

Ighmbp2<nmd>

neuromuscular degneration

Lama2<dy-2J>

dystrophia muscularis 2 Jackson

Large<myd>

myodystrophy

Lep<ob>

obese

Lepr<db>

diabetes

Mbp<shi>  shiverer

Mip<Cat-Fr>

dominant cataract Fraser

Mitf<mi>

microphthalmia

Mlph<ln>

leaden

Myo15<sh2>

shaker 2

Myo5a<d>

dilute

Myo6<sv>

Snell's waltzer

Myo7a<sh1>

shaker 1

Nek1<kat>

kidney, anemia and testis

Npc1<N>

Niemann Pick type C1 NIH

Oca<p-J>

pink-eyed dilution Jackson

Papss2<bm>

brachymorphic

Pax3<Sp>

splotch

Pax6<Sey-Dey>

small eye, Dickie

Pcdh15<av-3J>

Ames waltzer 3 Jackson

Phex<Hyp>

hypophosphatemia

Pit1<dw>

dwarf

Pitx3<ak>

aphakia

Plp<jp>

jimpy

Pmp22<Tr-J>

trembler Jackson

Prop1<df>

Ames dwarf

Prph2<Rd2>

retinal degeneration 2

Ptch<mes>

mesenchymal dysplasia

Rab27a<ash>

ashen

Reln<rl>

reeler

Slc45a2<uw-d> underwhite dense

Sgsh<mps3a>

mucopolysaccharidosis IIIA

Tcirg1<oc>

osteosclerotic

Tgn<cog>

congenital goiter

Tnfsf6<gld>

generalized lymphoproliferative disease

Tshr<hyt>

hypothyroid

Twist1<Pde>

polydactyly EMS