B6.Cg-Tyr^c-2J Hr^hr/J

Stock number: 017840
Product name: C57BL/6 albino;hairless
Research areas: Cancer Research, Cardiovascular Research, Dermatology Research, Developmental Biology Research, Immunology, Inflammation and Autoimmunity Research, Mouse/Human Gene Homologs, Research Tools, Sensorineural Research

Description

These B6.albino;hairless mice are a C57BL/6-congenic line harboring both the albino allele (Tyr^c-2J) and hairless allele (Hr^hr). The lack of skin pigmentation and hair allow studying ultraviolet light-induced carcinogenesis.

Detailed description

These B6.albino;hairless mice are a C57BL/6-congenic line harboring both the albino allele (Tyr^c-2J) and hairless allele (Hr^hr). The lack of skin pigmentation and hair allow studying ultraviolet light-induced carcinogenesis.

C57BL/6J-congenic albino mice are described and available from The Jackson Laboratory as Stock No. 000058.

C57BL/6J-congenic hairless mice are described and available from The Jackson Laboratory as Stock No. 001737. Females homozygous for the hairless mutation may become pregnant, but have poor lactation and fail to keep their pups warm; resulting in death of their litters.

In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. It should be noted that the phenotype of the C57BL/6-congenic albino;hairless mice could vary from that originally described for the individual mutant lines. We will modify the strain description if necessary as published results become available..

Development

These B6.albino;hairless mice were assembled at The Jackson Laboratory Repository in 2012 by mating C57BL/6J-albino mice (Stock No. 000058) with C57BL/6-hairless mice (also segregating for H2-T18^a; Stock No. 001737). The B6.albino;hairless colony (Stock No. 017840) was then maintained by breeding females homozygous for the albino mutation and heterozygous for the hairless mutation with males homozygous for the albino mutation and homozygous for the hairless mutation. During the first few rounds of breeding, animals were screened and selected to replace the H2-T18^a allele with the respective C57BL/6J allele (H2-T18^b).

The albino mutation Tyr^c-2J is a spontaneous mutation of the tyrosinase gene on chromosome 7. The G-to-T basepair change at nucleotide 291 (encoding an arginine-to-leucine amino acid change at residue 77 in the highly conserved DDRE sequence) is at the alternative 5' splice donor site for exon 1. C57BL/6J-congenic albino mice are available from The Jackson Laboratory as Stock No. 000058.

The "hairless" mutation (hr) has as a spontaneous retroviral integration of murine leukemia proviral sequences into intron 6 of the hairless gene (Hr) on chromosome 14; causing aberrant splicing of the gene. C57BL/6J-congenic hairless mice are available from The Jackson Laboratory as Stock No. 001737.

Allele

Symbol: Hr^hr
Name: hairless
MGI accession ID: MGI:1856057
Generation method: Spontaneous
Synonyms: hr; SKH-1
Marker symbol: Hr
Marker name: lysine demethylase and nuclear receptor corepressor
Marker synonyms: ALUNC; AU; ba; bldy; HSA277165; HYPT4; MUHH; MUHH1; N; rh; rh-bmh
Chromosome: 14
Strain of origin: Not Specified
Molecular note: The hr allele is the result of a retroviral integration. Insertion of murine leukemia proviral sequences into intron 6 results in aberrant splicing of the gene.

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.