Available mouse models

Below is a list of mutation-bearing strains characterized since 2003, listed alphabetically by gene. For mutations that have not yet been cloned, the loci are listed as "Unknown" at the bottom of the table.

  • Mouse gene symbols link to gene information in the Mouse Genome Informatics (MGI) database. MGI contains links to detailed genetic maps, all published references, phenotypic data and other useful information.
  • Mutation names link to MMR online or peer-reviewed articles describing the origin and description, pathology and genetic analysis of the mutation.
  • Human gene symbols link to orthologous human genes in the Online Mendelian Inheritance in Man (OMIM) database, where known. Associated diseases are also shown.

The mouse genomic variants described in the "Mutation" column of this table have been nominated by the Mouse Mutant Resource as most likely causative mutations. In many instances, the mutation is strongly substantiated due to similarity of the phenotype with previously characterized, similar phenotypes associated with the same gene. Sequencing data are generated to reveal the mutation and in some cases, causation is proven by complementation test or, in rare cases, by phenotypic rescue using a wild-type transgene. In other cases, candidacy of a particular variant is substantiated by our understanding of the candidate gene and its likely relevance to the observed phenotype, and by the presence of a potentially damaging mutation within the phenotypically defined genetic interval. In the latter cases (where complementation or some other type of phenotypic rescue has not been performed), investigators are advised to confirm causation by independent means in their own laboratories.

The extent to which any given mouse model is known to parallel a human disease can be determined by an examination of the relevant literature and is open to scientific inquiry by interested investigators.

Strains marked with an asterisk(*) are available as DNA only. All other listed strains, and additional mutant strains developed before 2003, are available from JAX® Mice.

Stock Number Gene Symbol Mutation/allelic series and mutation name Key phenotypes Human ortholog and associated human diseases
002560 Aars Aarssti
sticky
nervous system,
behavior,
integument
AARS
Charocot-Marie-Tooth disease, axonal, type 2N
001830 Abcg5 Abcg5trac
Thrombocytopenia and
cardiomyopathy
cardiovascular,
cellular,
metabolic,
hematopoietic system, immune system
ABCG5
Sistosterolemia

000537

004518

005501*

008292*

Agtpbp1 Agtpbp1pcd
Purkinje cell degeneration

Agtpbp1pcd-5J
Purkinje cell degeneration 5 Jackson

Agtpbp1pcd-7J
Purkinje cell degeneration 7 Jackson

Agtpbp1pcd-8J
Purkinje cell degeneration 8 Jackson

neurological AGTPBP1
009157 Ank1 Ank1pale
pale lethal

lethal, color ANK1
Spherocytosis, type 1

005444*

005532*

005952*

005961*

Ap3b1 Ap3b1pe-13J
pearl 13 Jackson

Ap3b1pe-14J
pearl 14 Jackson

Ap3b1pe-15J
pearl 15 Jackson

Ap3b1pe-16J
pearl 16 Jackson

coat color AP3B1
Hermansky-Pudlak Syndrome 2
008113 Ap3b2 Ap3b2m2J
mutation 2 Jackson
neurological AP3B2
022088 Ap3d1 Ap3d1mh-4J
mocha 4 Jackson
neurological, coat color AP3D1
Hermansky-Pudlack Syndrome
005598 Arsb Arsbm1J
mutation 1 Jackson
craniofacial, skeletal, neurological,
hearing
ARSB
Mucopolysaccharidosis type VI (Maroteaux-Lamy)
006449 Ass1 Ass1fold
follicular dystrophy
skin and hair ASS1
Citrullinemia
005042* Atp7a Atp7aMo-pew3J
pewter 3 Jackson
coat color,
neurological
ATP7A
Menkes disease;
Spinal muscular atrophy, distal, X-linked 3;
Occipital horn syndrome
007623 Bloc1s4 Bloc1s4cno
cappuccino
pigmentation,
hematopoietic,
vision/eye, behavior,
cellular, integument

BLOC1S4
Hermansky-Pudlak syndrome

005420

005421

Bmp5 Bmp5cfe-se7J
cauliflower ear-short ear 7 Jackson

Bmp5cfe-se8J
cauliflower ear-short ear 8 Jackson
ear BMP5

008622

008623

013083*

Cacna1a Cacna1atg-4J
tottering 4 Jackson

Cacna1atg-5J
tottering 5 Jackson

Cacna1atg-7J
tottering 7 Jackson

behavior,
neurological
mortality/aging,
behavior/neurological
neurological

CACNA1A
Episodic ataxia, type 2;
Migraine, familial hemiplegic 1;
Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia;
Spinocerebellar ataxia 6
001678 Cacna1f Cacna1fnob2
no b-wave 2
vision/eye, nervous
system
CACNA1F
Aland Island eye disease
Cone-rod dystrophy, X-linked, 3
Night blindness, congenital stationary, X-linked, type 2A

004951

007499*

Cacnb4 Cacnb4lh-3J
lethargic 3 Jackson

Cacnb4lh-4J
lethargic 4 Jackson
neurological CACNB4
Episodic ataxia, type 5;
(Epilepsy, idiopathic generalized, susceptibility to, 9);
(Epilepsy, juvenile myoclonic, susceptibility to, 6);
004625 Car8 Car8wdl
waddles
abnormal movement CA8
Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3

003761*

008288*

Cdh23 Cdh23v-7J
waltzer 7 Jackson

Cdh23v-11J
waltzer 11 Jackson
circling, hearing loss,
head tossing:
neurological/behavioral:
anomalies in motor capabilities, coordination,
and movement
CDH23
Usher syndrome, type 1D/F digenic;
Deafness, autosomal recessive 12;
Deafness, autosomal recessive 12;
000031 Cep290 Cep290rd16
retinal degeneration 16

vision/eye,
pigmentation,
nervous system

CEP290
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome type 4
Senior-Loken syndrome 6
008253* Clcn1 Clcn1mto-9J
myotonia 9 Jackson
neurological CLCN1
Myotonia congenita, dominant;
Myotonia congenita, recessive;
Myotonia levior, recessive
014631 Clec16a Clec16acurt
curvy tail
skeletal, neurological CLEC16A
002648 Cln6 Cln6nclf
neuronal ceroid lipofuscinosis
behavior, nervous
system, vision/eye,
aging
CLN6
Ceroid lipofuscinosis, neuronal, 6
Ceroid lipofuscinosis, neuronal, Kufs type, adult onset
004965 Clic5 Clic5jbg
jitterbug
hearing/vestibular/
ear, behavior,
nervous system,
respiratory
CLIC5
002717 Cntn1 Cntn1m1J
mutation 1 Jackson
neurological CNTN1
Myopathy, congenital, Compton-North
010823 Cntnap1

Cntnap1shm-5J
shambling 5 Jackson

neurological CNTNAP1

012724


016585

003916

Col2a1

Col2a1M2J
mutation 2 Jackson

Col2a1M3J

mutation 3 Jackson

Col2a1sedc
spondyloephiphyseal dysplasia congenita

craniofacial,
digestive/alimentary

craniofacial

behavior, eye/vision,
hearing/vestibular,
growth/size, nervous
system

COL2A1

Achondrogenesis, type II or hypochondrogenesis
Avascular necrosis of the femoral head
Czech dysplasia
Epiphyseal dysplasia, multiple, with myopia and deafness
Kniest dysplasia
Legg-Calve-Perthes disease
Osteoarthritis with mild chondrodysplasia
Otospondylomegaepiphyseal dysplasia
Platyspondylic skeletal dysplasia, Torrance type
SED congenita
SED, Namaqualand type
SMED Strudwick type
Spondyloperipheral dysplasia
Stickler syndrome, type I, nonsyndromic ocular
Stickler syndrome, type I
Vitreoretinopathy with phalangeal epiphyseal dysplasia

006408

010970

016903

Dab1 Dab1scm-3J
scrambler 3 Jackson

Dab1scm-4J
scrambler 4 Jackson

Dab1scm-5J
scrambler 5 Jackson
neurological/behavioral:
abnormal motor
capabilities/coordination/
movement/balance/
physical strength
DAB1
004196* Dcc Dcckanga
kanga
behavior, nervous system,
cellular
DCC
Colorectal cancer
Mirror movements, congenital
005040 Dll3 Dll3pu-J
pudgy Jackson
tail, skeleton DLL3
Spondylocostal dysostosis, autosomal recessive, 1

008000

006038

006046

Dscam Dscamdel17
deletion in exon 17

Dscam2J
2 Jackson

Dscam3J
3 Jackson
mortality/aging, nervous
system, vision/eye
behavior, craniofacial, skeleton, vision/eye,
nervous system
DSCAM
005543 Duox2 Duox2thyd
dual oxidase 2; thyroid
dishormonogenesis

endocrine, metabolic, hearing, skeletal

DUOX2
Thyroid dyshormonogenesis 6
005135

Edn3 (unproven)

Edn3Sls

semidominant lethal spotting

color spotting,
homozygous lethality
at weaning age
EDN3 (presumed)
Central hypoventilation syndrome, congenital;
Waardenburg syndrome, type 4B;
(Hirschsprung disease, susceptibility to, 4)
006045 Eif3c Eif3cXsl
extra-toes spotting-like
skeletal, color spotting EIF3C
012810 Enpp1 Enpp1asj
ages with stiffened joints
skeletal ENPP1
Arterial calcification, generalized, of infancy
Hypophosphatemic rickets, autosomal recessive, 2
Ossification of posterior longitudinal ligament of spine
(Diabetes mellitus, non-insulin-dependent, susceptibility to)
(Obesity, susceptibility to)

001502

003129

Epha4

Epha4rb
rabbit

Epha4rb-2J
rabbit 2 Jackson

neurological/behavioral:
anomalies in motor capabilities, coordination,
and movement

EPHA4
004774 Fam83g Fam83gwly
wooly
skin and hair FAM83G
021490 Fbn2 Fbn2fp-4J skeleton, limbs & digits, eye FBN2
Contractural arachnodactyly, congenital
Macular degeneration, early-onset
005412 Fgfr1 Fgfr1Eask
ear askew
craniofacial FGFR1
Hypogonadotropic hypogonadism
Jackson-Weiss syndrome
Kallman syndrome 2
Osteoglophonic dysplasia
Pfeiffer syndrome
Trigonocephaly 1
014182 Fgfr3 Fgfr3m1J
mutation 1 Jackson
skeletal, hearing FGFR3
Achondroplasia;
Bladder cancer, somatic;
CATSHL syndrome;
Cervical cancer, somatic;
Colorectal cancer, somatic;
Crouzon syndrome with acanthosis nigricans;
Hypochondroplasia;
LADD syndrome;
Muenke syndrome;
Nevus, keratinocytic, nonepidermolytic;
Spermatocytic seminoma, somatic;
Thanatophoric dysplasia, type I;
Thanatophoric dysplasia, type II;
016195 Foxn1 Foxn1nu-2J
nude 2 Jackson
athymic, skin, hair FOXN1
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
006857 Frem2 Frem2ne
no eyelid
eye, skeleton, coat color, kidney FREM2
Fraser syndrome
003613 Galc Galctwi-5J
twitcher 5 Jackson
neurological GALC
Krabbe disease
014183

021333
Gdf5 Gdf5bp-4J
Brachypodism 4 Jackson

Gdf5Bp-5J
Brachypodism 4 Jackson
skeletal

GDF5
Hunter-Thompson type acromesomelic dysplasia
Grebe type chondrodysplasia
type A2 brachydactyly
type C brachydactyly
Fibular hypoplasia and complex brachydactyly
Multiple synostoses syndrome 2
proximal symphalangism
osteoarthritis

006795 Gnat2 Gnat2cpfl3
cone photoreceptor
function loss 3
Vision/eye, nervous
system, cardiovascular
GNAT2
Achromatopsia-4
004688* Grem1 Grem1ld-3J
limb deformity 3 Jackson
skeletal defects, limbs GREM1
014101 Grhl1 Grhl1m1J
mutation 1 Jackson
skin and hair GRHL1
005344*

021782

017687
Grid2 Grid2ho-15J
hotfoot 15 Jackson

Grid2ho-18J
hotfoot 18 Jackson

Grid2ho-19J
hotfoot 19 Jackson
neurological/behavioral:
anomalies in motor capabilities, coordination,
and movement
GRID2

005494

005271*

005521

006009*

Grm1 Grm1rcw
recoil wobbler

Grm1rcw-2J
recoil wobbler 2 Jackson

Grm1rcw-3J
recoil wobbler 3 Jackson

Grm1rcw-4J
recoil wobbler 4 Jackson
neurological, behavioral GRM1
005354 Gulo Gulosfx-2J

spontaneous fracture 2 Jackson

skeletal GULOP (Gulo pseudogene)
hypoascorbemia
005898 Hcn2 Hcn2trills
tremor and reduced lifespan
neurological HCN2
008723 Hcn2trls-2J
tremor and reduced lifespan 2 Jackson

015824

008676

Hmx1 Hmx1dmbo
dumbo

Hmx1mpe
misplaced ears
craniofacial, vision/eye,
hearing/vestibular/ear,
growth/size
craniofacial, growth/size,
hearing/vestibular/ear
HMX1
Oculoauricula syndrome

006656*

007711

Hps3 Hps3coa-7J
cocoa 7 Jackson

Hps3coa-8J
cocoa 8 Jackson
coat color HPS3
Hermansky-Pudlak syndrome 3
000577 Hps5 Hps5ru2
ruby eye 2
coat color HPS5
Hermansky-Pudlak syndrome 5

000103

005559*

009368*

Hps6 Hps6ru
ruby-eye

Hps6ru-7J
ruby-eye 7 Jackson

Hps6ru-8J
ruby-eye 8 Jackson
coat color HPS6
Hermansky-Pudlak syndrome 6
021500 Hr

Hrrh-10J
rhino 10 Jackson

hair, integument HR
Alopecia universalis
Atrichia with papular lesions
Hypotrichosis, hereditary, Marie Unna type 1
006428 Hydin Hydinhyrh
hydrocephalus and rhinitis
craniofacial HYDIN
001768 Irs1 Irs1Sml
small
growth/size,
skeletal, metabolic,
limbs
IRS1
(Coronary artery disease, susceptibility to)
Diabetes mellitus, noninsulin-dependent)
013589

016099

014106

014105
Kcnn2 Kcnn2bc-6J
bouncy 6 Jackson

Kcnn2bc-7J
bouncy 7 Jackson

Kcnn2bc-8J
bouncy 8 Jackson

Kcnn2bc-9Jbouncy 9 Jackson
neurological, ataxia and tremor KCNN2

004407

Kcnq1 Kcnq1vtg-2J
vertigo 2 Jackson
head tossing/bobbing,
deafness;
neurological/behavioral:
anomalies in motor capabilities, coordination,
and movement
KCNQ1
Atrial fibrillation, familial, 3;
Jervell and Lange-Nielsen syndrome;
Short QT syndrome-2;
Long QT syndrome-1;
(Long QT syndrome 1, acquired, susceptibility to)

000169

000062

000121

006564

001563


021149

Kit Kitw-20J
dominant spotting 20 Jackson

Kitw-39J
dominant spotting 39 Jackson

Kitw-40J
dominant spotting 40 Jackson

Kitw-41J
dominant spotting 41 Jackson

Kitw-73J
dominant spotting 73 Jackson

Kitw-85J
dominant spotting 85 Jackson
pigmentation, integument,
mortality, hematopoeitic,
endocrine/exocrin
KIT
Gastrointestinal stromal tumor, somatic
Germ cell tumors
Leukemia, acute myeloid
Mast cell leukemia
Mastocytosis with associated hematologic disorder
Piebaldism

006108*

006839*

006961*

014608

Kitl KitlSl-21J
steel 21 Jackson

KitlSl-22J
steel 22 Jackson

KitlSl-23J
steel 23 Jackson

Kitlsl-24Jsteel 24 Jackson
coat color and
belly spot
KITLG
Hyperpigmentation, familial progressive, 2
(Skin/hair/eye pigmentation 7, blond/brown hair)
017307*

022312

021060
Krt71

Krt71Ca-17J
caracul 17 Jackson

Krt71Ca-18Jcaracul 18 Jackson

Krt71Ca-19J
caracul 19 Jackson

hair KRT71

005736

005123*

005131*

005211*

005409*

Krt71
(unproven)
calre
caracul-like recessive
Cal4
caracul-like 4
Cal5
caracul-like 5
Cal6
caracul-like 6
Cal7
caracul-like 7
Hair, curly coat KRT71 (presumed)
009692* Lama2 Lama2dy-8J
dystrophia muscularis 8 Jackson
neuromuscular LAMA2
Muscular dystrophy, congenital merosin-deficient
Muscular dystrophy, congenital, due to partial LAMA2 deficiency
008581 Large Largemyd-3J
myodystrophy 3 Jackson
craniofacial,
neuromuscular, eye
LARGE
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6
013716 Lhfpl2

Lhfpl2vgim
vaginal imperforation &

reproductive LHFPL2
005638 Lhfpl5

Lhfpl5hscy-2J
hurry scurry 2 Jackson

hearing, vestibular,
behavior
LHFPL5
Deafness, autosomal recessive 67
001934 Lmna LmnaDhe
disheveled hair and ear
craniofacial, small ears,
sparse coat, model of
human laminopathies
LMNA

Cardiomyopathy, dilated, 1A
Charcot-Marie-Tooth disease, type 2B1
Emery-Dreifuss muscular dystrophy 2, AD
Emery-Dreifuss muscular dystrophy 3, AR
Heart-hand syndrome, Slovenian type
Hutchinson-Gilford progeria
Lipodystrophy, familial partial, 2
Malouf syndrome
Mandibuloacral dysplasia
Muscular dystrophy, congenital
Muscular dystrophy, limb-girdle, type 1B
Restrictive dermopathy, lethal

000636

001447*

001525*

002624

004202

005619*

007786*

Lmx1a Lmx1adr-J
LIM homeobox transcription factor 1 alpha; dreher Jackson

Lmx1adr-3J
LIM homeobox transcription factor 1 alpha; dreher 3 Jackson

Lmx1adr-4J
LIM homeobox transcription factor 1 alpha; dreher 4 Jackson

Lmx1adr-6J
LIM homeobox transcription factor 1 alpha; dreher 6 Jackson

Lmx1adr-8J
LIM homeobox transcription factor 1 alpha; dreher 8 Jackson

Lmx1adr-10J
dreher 10 Jackson

Lmx1adr-11J
dreher 11 Jackson

circling/hearing loss/
head toss
LMX1A

004423

010968

Lrp4 Lrp4mdig
malformed digits

Lrp4mdig-2J
malformed digits 2 Jackson
craniofacial, teeth,
skeleton, digits, tail
LRP4
Cenani-Lenz syndactyly syndrome;
Sclerosteosis 2
006126* Lyst Lystbg-16J
beige 16 Jackson
coat color LYST
Chediak-Higashi syndrome
012874 Map3k11 Map3k11m1J
mutation 1 Jackson
integument, teeth MAP3K11
005226 Mbp Mbpshi-J
shiverer Jackson
neurological MBP
007710 Mmp14 Mmp14sabe craniofacial, small body, shortened lifespan MMP14
010494 Mpz Mpzttrr
totterer
neuromuscular MPZ
Charcot-Marie-Tooth disease, dominant intermediate 3
Charcot-Marie-Tooth disease, type 1B
Charcot-Marie-Tooth disease, type 2I
Charcot-Marie-Tooth disease, type 2J
Dejerine-Sottas disease
Neuropahy, congenital hypomyelinating
Roussy-Levy syndrome

014104

016100*

Myo5a Myo5ad-l32J
dilute lethal 32 Jackson

Myo5ad-l33J
dilute lethal 33 Jackson
pigmentation,
neurological
MYO5A
Griscelli syndrome, type 1

006124

008456*

Myo6 Myo6sv-2J
Snell's waltzer 2 Jackson

Myo6sv-4J
Snell's waltzer 4 Jackson
circling/head bobbing/ deafness;
neurological/behavioral:
anomalies in motor capabilities, coordination,
and movement
MYO6
Deafness, autosomal dominant 22
Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy
Deafness, autosomal recessive 37
022311 Myo7a Myo7ash1-13J
shaker 1, 13 Jackson
neurological

MYO7A
Deafness, autosomal dominant 11
Deafmess. autosomal recessive 2
Usher syndrome, type 1B

024583 Myo10 Myo10m1J
mutation 1 Jackson
pigmentation, integument, vision, limbs/digits MYO10
005218* Myo15 Myo15sh2-3J
shaker 2 3 Jackson
neurological/behavioral:
anomalies in motor capabilities, coordination,
and movement;
deafness/ head bobbing
MYO15A
Deafness, autosomal recessive 3
001035 Napa Napahyh
hydrocephaly with hop gait
NAPA
005330 Notch3

Notch3hpbk
humpback

skeletal, neuromuscular

NOTCH3
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

000061

003483

006228

005014

Pending

Nox3 Nox3het
head tilt

Nox3het-2J
head tilt 2 Jackson

Nox3het-3J
head tilt 3 Jackson

Nox3het-4J
head tilt 4 Jackson

Nox3het-5J
head tilt 5 Jackson
behavior, hearing,
vestibular
NOX3
003961 Noxo1 Noxo1hslt
head slant
balance deficit NOXO1
004521 Nppc Nppclbab
long bone abnormality
size, skeletal, limbs NPPC

004200

013252

Npr2 Npr2cn-2J
achondroplasia 2 Jackson

Npr2cn-3J
achondroplasia 3 Jackson
skeletal defects,
body size, limbs
NPR2
Acromesomelic dysplasia, Maroteaux type

008188

008254*

Npr3 Npr3lgj-3J
longjohn 3 Jackson

Npr3lgj-4J
longjohn 4 Jackson
skeletal/limbs NPR3
Hypertension, salt-resistant
Oca2

Oca2p-18J
pink-eyed dilution 18 Jackson

pigmentation OCA2
Albinism, brown oculocutaneous
Albinism, oculocutaneous, type II
(Oculocutaneous albinism, type II, modifier of)
006128 Otof Otofdeaf5Jcs
deaf 5 John C. Schimenti
Hearing, vestibular,
behavior
OTOF
Auditory neuropathy, autosomal recessive, 1
Deafness, autosomal recessive 9
000531 Otx1 Otx1jv
Jackson waltzer
circling, head bobbing OTX1
012853* Pax3(unproven) Splchl2
Splotch-like2
color spotting and
tail
PAX3 (presumed)
Craniofacial-deafness-hand syndrome
Rhabdomyosarcoma 2, alveolar
Waardenburg syndrome, type 1
Waardenburg syndrome, type 3
004622* Pcdh15 Pcdh15av-jfb
Ames waltzer James F Battey
circling,head-bobbing,
deafness
PCDH15
Usher syndrome, type 1D/F digenic;
Usher syndrome, type 1F;
Deafness, autosomal recessive 23
003678 Pde6c Pde6ccpfl1
cone photoreceptor
function loss 1
vision/eye,
nervous system
PDE6C
Cone dystrophy 4
004235

011079
Pfas PfasSofa
short face

PfasSofa-2J
short face 2 Jackson
craniofacial PFAS

000528

003950

Phex PhexHyp
Hypophosphatemia

PhexHyp-2J
Hypophosphatemia 2 Jackson
craniofacial, growth/
size, limbs/tail/skeleton,
hearing/vestibular
PHEX

Hypophosphatemic rickets, X-linked dominant

012624 Pld4

Pld4thss
thin hair with small size

hair and body size
021550 Pmp22 Pmp22Tr-2J
trembler 2 Jackson
neurological PMP22
Charcot-Marie-Tooth disease
Dejerine-Sottas disease
Inflammatory demyelinating Neuropathy
Recurrent neuropathy with pressure palsies
Roussy-Levy syndrome
007782 Pofut1 Pofut1cax
compact axial skeleton
skeleton, growth/size,
limbs/digits/tail
POFUT1
004406 Pou3f4 Pou3f4del-J
Pou3f4 deletion Jackson
behavior/neurological/
hearing/vestibular/
ear phenotype
POUF3F4
Deafness, X-linked 2
007971 Ppp1r13l Ppp1r13lwa3-J
waved 3 Jackson

Hair and eye
abnormalities and
congestive heart failure

PPP1R13L
008568



026195
Prkra Prkralear
little ears


Prkralear-3J
little ears 3 Jackson

smaller ear pinna and
smaller overall
body size

craniofacial, hearing, fertility

PRKRA
Dystonia 16
005089 Qk Qkqk-2J
quaking 2 Jackson
Neurological QKI

004684

005565

Rab38(unproven) chtl
chocolate-like

chtl-2J
chocolate-like 2 Jackson
coat color RAB38 (presumed)
000729 Rd3 Rd3rd3
retinal degeneration 3
vision/eye,
nervous system
RD3
Leber congenital amaurosis 12
012856 Relb Relbshep
spontaneous hepatitis
metabolic, body size,
immunologic
RELB

005250

005562*

007892*

008764*

Reln Relnrl-4J
reeler 4 Jackson

Relnrl-5J
reeler 5 Jackson

Relnrl-7J
reeler 7 Jackson

Relnrl-8J
reeler 8 Jackson
Size, neurological RELN
Lissencephaly 2 (Norman-Roberts type)
005544 Robo3 Robo3m1J
mutation 1 Jackson
neurological, ataxia ROBO3
Gaze palsy, horizontal, with progressive scoliosis
004073* Scn8a Scn8amed-jo2J
jolting 2 Jackson
neurological/behavioral:
anomalies in motor capabilities, coordination,
and movement
SCN8A
Cognitive impairment with or without cerebellar ataxia
006446 Sh3pxd2b Sh3pxd2bnee
nose, eyes, ear
craniofacial, size,
vision/eye, skeletal
SH3PXD2B
Frank-ter Haar syndrome
003777 Sil1 Sil1wz
woozy
mortality/aging,
behavior, nervous system
SIL1
Marinesco-Sjogren syndrome
004683 Slc12a6 Slc12a6gaxp
giant axonopathy
neuromuscular SLC12A6
Agenesis of the corpus callosum with peripheral neuropathy
006816 Slc26a4 Slc26a4pdsm
Pendred Syndrome model
neurological/behavioral:
anomalies in motor capabilities, coordination,
and movement;
deafness/head bobbing
SLC26A4
Enlarged vestibular aqueduct
Pendred syndrome
008544

019114
Slc45a2 Slc45a2uw-6J
underwhite 6 Jackson

Slc45a2uw-7J
underwhite 7 Jackson
coat color SLC45A2
Oculocutaneous albinism, type IV;
(Skin/hair/eye pigmentation 5, black/nonblack hair);
(Skin/hair/eye pigmentation 5, dark/fair skin);
(Skin/hair/eye pigmentation 5, dark/light eyes);
005962 Slc45a2 (unproven) uwl
underwhite-like
000648 Soat1 Soat1ald
adrenocortical lipid depletion
integument SOAT1
005717 Sostdc1 Sostdc1shk
sharkey
teeth and hearing SOSTDC1
012857 Sox10 Sox10M2J
mutation 1 Jackson
pigmentation SOX10
PCWH syndrome
Waardenburg syndrome, type 2E, with or without neurologic involvement
Waardenburg syndrome, type 4C

000450

000446

007875

Spna1 Spna1sph
spherocytosis

Spna1sph-ha
spherocytosis hemolytic anemia

Spna1sph-3J
spherocytosis 3 Jackson
mortality/aging,
hematopoeitic,
cardiovascular, immune
renal/urinary,
liver/biliary
SPTA1
Elliptocytosis-2
Pyropoikilocytosis
Spherocytosis, type 3

008521*

008522*

Spnb4 Spnb4qv-10J
quivering 10 Jackson

Spnb4qv-11J
quivering 11 Jackson
neurological SPTBN4
018072 T T11J
brachyury 11 Jackson
skeletal T
Neural tube defects
021221 Tl5 Tl5
brachyury-like 5
skeletal
003148 Tdo2

Tdo2chky
chick yellow

pigmentation, eye defect TDO2
008044 Tmem67
(among other genes)
bpck
bilateral polycystic kidney deletion region (multigenic mutation)
renal/urinary, nervous
system, mortality/aging,
endocrine/exocrine gland
TMEM67
COACH syndrome
Joubert syndrome 6
Meckel syndrome, type 3
Nephronophthisis 11
(Bardet-Biedl syndrome 14, modfier of)
014103 Tmem79 Tmem79m1J
mutation 1 Jackson
hair
008834 Tmie Tmiesr-2J
spinner 2 Jackson
neurological/behavioral:
anomalies in motor capabilities, coordination,
and movement;
deafness/circling
TMIE
Deafness, autosomal recessive 6
006013

007852 or
023018
Tpotee
teeny

Tpotee-2J
teeny 2 Jackson
endocrine, size, hearing TPO
Thyroid dyshormonogenesis 2A
012876 Tpp1 Tpp1m1J
mutation 1 Jackson
neuromuscular TPP1
type 2 neuronal ceroid lipofuscinosis
003612 Trak1 Trak1hyrt
hypertonic
behavior TRAK1
008832

025735

Tshr Tshrhyt-2J
hypothyroid 2 Jackson

Tshrhyt-3J
hypothyroid 3 Jackson
growth/size, metabolism, sterility, hearing TSHR
congenital nongoitrous hypothyroidism type 1
013110 Uchl1 Uchl1gad-2J
gracile axonal dystrophy 2 Jackson
neuromuscular UCHL1
(Parkinson disease 5, susceptibility to)
001607 Unc5c Unc5crcm
rostral cerebellar malformation
nervous system,
behavior, cellular,
growth/size
UNC5C

004771

004768

006104

Ush1c Ush1cdfcr
deaf circler

Ush1cdfcr-2J
deaf circler 2 Jackson

Ush1cdfcr-3J
deaf circler 3 Jackson
neurological/behavioral:
anomalies in motor capabilities, coordination,
and movement;
deafness/circling
USH1C
Deafness, autosomal recessive 18
Usher syndrome, type 1C
006111 Ush1g Ush1gjs-2J
Jackson shaker 2 Jackson
neurological/behavioral:
anomalies in motor capabilities, coordination,
and movement;
deafness/head bobbing
USH1G
Usher syndrome, type 1G
003095 Vac14 Vac14ingls
infantile gliossis
behavior, nervous system,
growth/size, pigmentation,
integument, mortality
VAC14
004626 Vamp1 Vamp1lew
lethal wasting
failure to thrive VAMP1
016098


018166
Wnt7a Wnt7apx-J
postaxial hemimelia Jackson

Wnt7apx-2J
postaxial hemimelia 2 Jackson
skeletal deformities of the digits and forelimbs, sterility, epidermal bulges WNT7A
Fuhrmann syndrome
017748 Xlhl
Xlhl
X-linked hair loss
integument
005327


022138
Zfp191 Zfp191hmcns
hypomyelinated central nervous system

Zfp191hmcns-2J
hypomyelinated central nervous system 2 Jackson
mortality/aging, behavior
nervous system
ZNF24
Uncloned mutations

004780

008657

014084

Unknown agil
agitans-like

agil2J
agitans-like 2 Jackson

agil3J
agitans-like 3 Jackson
neurological
021220 Unknown ahlg
abnormal hind leg
neurological, growth/size, skeletal
000624 Unknown anx neurological, behavioral
013782 Unknown aphl
atypical hair loss
skin and hair
005349 Unknown awag
ages with abnormal gait
neurological/behavioral:
anomalies in motor capabilities, coordination,
and movement
008129 Unknown

Bhrd
bad hair day

skin and hair
006157 Unknown baw
black and white
coat color
003818 Unknown bdd
bulging disc disease
skeletal
024009 Unknown blnt
blunt tail
development, tail
006448 Unknown Bolt
lightning bolt tail
skeletal
005136 Unknown ctl
curly tail-like
skeletal
003826 Unknown cub
curly bare
hair
003398 Unknown dal
dark-like
coat color, size, skeletal,
metabolic
010822 Unknown dde
disproportionate dwarf
and eye defect
skeletal and eye
006274 Unknown Dfb
deaf ballerina
neurological, behavioral
006058 Unknown Dkd
darkened dorsal
skin and hair
012654 Unknown Dsht
dominant short tail
skeletal
013084 Unknown Dts
dominant tail short
skeletal
006429 Unknown Dwh
dispersed white hair
coat color
003485 Unknown frg
froggy
body size and
skull shape
003606 Unknown frzl
frizzy-like
hair
008296 Unknown fsq
flying squirrel
neurological
012596 Unknown Hdlk
Hypodactyly like
limbs, digits, renal,
urinary
system
007947 Unknown He
helicopter Ears
craniofacial, skeletal
006948 Unknown hstp
high stepper
neuorlogical/eye
004070 Unknown hml
hypoplasia of the membranous labyrinth
hearing/vestibular/ear,
behavior/neurological

003561

004689*

Unknown

Hxl
hemimelic extra toes-like
Hxl2
hemimelic extra toes-like 2

skeleton, limbs, toes
003922 Unknown jgl
jagged tail-like
skeletal, tail,
reproductive tract abnormalities
013121 Unknown Lootl
loop tail-like
skeletal
004502 Unknown Lxl2
luxate-like 2
limbs
003628 Unknown Mcub
modifier of curly bare
hair
004806 Unknown Mfs
mutant fur is striped
skin and hair
010637 Unknown oar
oarleg
limb
008548 Unknown oda
overall diluted appearance
pigmentation
013715 Unknown psds1l
psoriasis-like skin disease severity1-like
skin and hair
012875 Unknown qvyr neurological

005574*

006107

Unknown rslk
recessive spotting-like

rslk2J
recessive spotting-like
2 Jackson
coat color, spotting
005362 Unknown rul
ruffled
hair
016196 Unknown Scs
semi-dominant compacted skeleton
skeleton
006247 Unknown sevr
severe runting
size, skeletal
005482 Unknown Shar
shiny and rough
skin and hair

005133*

005132*

Unknown shmy2J
shimmy 2 Jackson

shmy3J
shimmy 3 Jackson
neurological
008753 Unknown shsnshort snout craniofacial, eyes
009156 Unknown skp
skimpy
gait, size, fertility,
lethal
006057 Unknown sky
severe kyphosis
skeleton, limbs
006603 Unknown slck
slick hair
hair and skin
016887 Unknown smrl
small roller
neurological, size
004476 Unknown snol
snubnose-like
craniofacial,
skeletal, tail
Unknown ssl
small swaying lethal
Neurological
004507 Unknown stn
stunted
craniofacial,
coat color
005415 Unknown stpm
short term perm
hair
006246 Unknown sunk
sunken
skeletal
006935 Unknown thnh
thin hair
skin and hair
003400 Unknown Thpr
tooth hopper
size, neurological, development
008425* Unknown Trl
trembler-like
Neurological
005323 Unknown tnyw
tiny wasting
size, neurological

018138
Unknown Trms neurological, wasting,
ataxia
006425 Unknown Tsed
twisted legs and extra digits
skeletal

004667

012306

Unknown tth
tremor with tilted head

tth2J
tremor with tilted head 2 Jackson
neurological/behavioral:
anomalies in motor capabilities, coordination,
and movement
004416 Unknown twit
twitter
neurological,
survival
023062 Unknown uslunsteady small lethal neurological, size, developmental
006450 Unknown Vss
variable spot and size
color and size
008048* Unknown wa1l
waved 1-like
skin and hair
012625 Unknown wblo
wobbly locomotion
neurological
005624 Unknown whe
white eyes
eye
004620 Unknown Whll
wheels-like
moderate circler,
mild hearing
impairment
003397 Unknown Wtgr
wavy tiger
Skin and hair
005274 Unknown Xls
X-linked stripe
coat color