B6.Cg-Golga1^awag Tyr^c-2J/GrsrJ

Stock number: 005349
Product name: ages with abnormal gait
Research areas: Dermatology Research, Mouse/Human Gene Homologs, Neurobiology Research, Sensorineural Research

Description

Mice with this spontaneous mutation are characterized by walking with a tremor and splaying their hind legs when picked up.

Detailed description

awag homozygotes have a distinct tremor when walking. When lifted by the tail these mutant mice do not splay their hind legs out as normal mice do, but instead hold their legs in a bowlegged umbrella manner and arch their backs. Both sexes breed and live a normal life span.

Development

The awag mutation arose spontaneously in 1998 on the C57BL/6J-Tyr^c-2J/J background (Stock No. 000058)in the production facility of The Jackson Laboratory where it was discovered by Jay Wellington. This mutant subline has been maintained by sibling mating ever since and this strain is still homozygous for Tyr^c-2J although maintained segregating for awag.

Allele

Symbol: Tyr^c-2J
Name: albino 2 Jackson
MGI accession ID: MGI:1855985
Generation method: Spontaneous
Attributes: Null/Knockout
Marker symbol: Tyr
Marker name: tyrosinase
Marker synonyms: ATN; CMM8; Oca1; OCA1A; OCAIA; SHEP3; skc35
Chromosome: 7
Strain of origin: B6.Cg-Tyrp1^b Hps1^ep
Site of expression: Expressed in melanosomes
Molecular note: This mutation has a G-to-T base change at coding nucleotide 230 resulting in an amino acid change from arginine to leucine at residue 77 (p.R77L) which lies in the highly conserved DDRE sequence. Nucleotide 230 is at the alternative 5' splice donor site for exon 1 and this allele does not produce the 1a or 1b subset of tyrosinase transcripts but does produce a significant increase in 1c and 1d transcripts. Western blots of homozygous mutant skin extracts demostrate the nearly complete absence of the broad 76-84 kDa band of glycosylated wild-type tyrosinase. No tyrosinase activity was found in hairbulb extracts from homozygous mice.

Allele

Symbol: Golga1^awag
Name: ages with abnormal gait
MGI accession ID: MGI:3510600
Generation method: Spontaneous
Marker symbol: Golga1
Marker name: golgi autoantigen, golgin subfamily a, 1
Marker synonyms: 0710001G09Rik; 2210418B03Rik; awag; Golgi97; golgin-97
Chromosome: 2
Strain of origin: B6(Cg)-Tyr^c-2J/J
Molecular note: This spontaneous mutation was discovered in 1998 at The Jackson Laboratory. The molecular lesion is a small intragenic deletion of TTCACAC at 39,023,425-431 (GRCm38) in the gene. This causes a frame shift and premature termination.