C.Cg-Myo7a^sh1-13J/GrsrJ

Stock number: 022311
Research areas: Neurobiology Research, Sensorineural Research

Description

This recessive spontaneous single amino acid substitution in the myosin motor domain results in the head tossing and abnormal gait commonly found in Myo7a mutants.

Detailed description

Mice homozygous for Myo7a^sh1-13J display extensive head tossing and some head shaking and head bobbing. Their gait can be lower to the ground than normal with the feet held wider apart and the tail often held aloft. They also have an increased tendency to move backward. Circling behavior has not been noted and homozygotes can reproduce and live a normal lifespan.

Development

The Myo5a^sh1-13J mutation arose spontaneously in the C.129S1(B6)-Gata1^tm6Sho/J strain at The Jackson Laboratory. This mutation was maintained by backcross-intercross of homozygous mutant females to BALB/cByJ males for two cycles and was subsequently sibling intercrossed for three generations then again backcross-intercross bred for one cycle before sperm was cryopreserved from homozygous males that had been backcrossed a cumulative total of three times away from the mutant parent strain. Thus, the Gata1^tm6Sho mutation may still be present in this frozen sperm and recovered pups will be genotyped for both mutations.

Allele

Symbol: Myo7a^sh1-13J
Name: shaker 1, 13 Jackson
MGI accession ID: MGI:5566827
Generation method: Spontaneous
Attributes: Not Specified
Marker symbol: Myo7a
Marker name: myosin VIIA
Marker synonyms: DFNA11; DFNB2; Hdb; Myo7; MYOVIIA; MYU7A; nmf371; NSRD2; polka; USH1B
Chromosome: 7
Strain of origin: C.129S1(B6)-Gata1^tm6Sho/J
Molecular note: A spontaneous C to T transition at position 98,097,488 of chromosome 7 (GRCm38/mm10) changes amino acid 212 from arginine to histidine (p.R212H).