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 Class

Chr 

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

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