B6;129-Gla^tm1Kul Itpr1^wblo/GrsrJ

Stock number: 012625
Research areas: Metabolism Research, Neurobiology Research

Description

Mice both homozygous for the wblo mutation and homozygous or hemizyogus for the Gla^tm1Kul mutation develop a wobbly gait by approximately 5 weeks of age that decreases in severity with age.

Detailed description

Mice both homozygous for the wblo mutation and homozygous or hemizyogus for the Gla^tm1Kul mutation develop a wobbly gait by approximately 5 weeks of age that decreases in severity with age.

Development

The wblo mutation arose spontaneously in the homozyogus strain B6;129-Gla^tm1Kul/J. One backcross to C57BL/6J was done and then the offspring were sibling intercrossed. The resulting strain is still homozygous for the X-linked Gla^tm1Kul mutation and maintained segregating for the recessive wblo mutation.

Allele

Symbol: Gla^tm1Kul
Name: targeted mutation 1, Ashok B Kulkarni
MGI accession ID: MGI:1861794
Generation method: Targeted
Attributes: Null/Knockout
Synonyms: alpha-Gal A -/0; alpha-galA^-; Gla-
Marker symbol: Gla
Marker name: galactosidase, alpha
Marker synonyms: Ags; GALA
Chromosome: X
Strain of origin: 129S4/SvJae
Molecular note: A 1kb genomic fragment containing part of exon 3 and intron 3 was replaced by a neomycin resistance cassette.

Allele

Symbol: Itpr1^wblo
Name: wobbly locomotion
MGI accession ID: MGI:4437432
Generation method: Spontaneous
Marker symbol: Itpr1
Marker name: inositol 1,4,5-trisphosphate receptor 1
Marker synonyms: ACV; CLA4; I145TR; InsP3R; InsP3R type I; INSP3R1; IP3R; IP3R1; Itpr-1; opt; P400; Pcp1; Pcp-1; PPP1R94; SCA15; SCA16; SCA29; wblo
Chromosome: 6
Strain of origin: B6;129-Gla^tm1Kul/J
Molecular note: This spontaneous mutation was identified at The Jackson Laboratory. The molecular lesion is a G-to-A mutation at coding nucleotide 1166 of the cDNA (NM_010585) which alters an arginine to a histidine at position 389 of the encoded protein (p.R389H).