C57BL/6J-Ank1^pale/GrsrJ

Stock number: 009157
Research areas: Dermatology Research, Developmental Biology Research

Description

Pale lethal homozygotes are smaller than normal littermates, have a pale light grey skin color, evident at birth, and most die by one week of age, although some have survived to 3 or 4 weeks of age. Some prenatal lethality is implied by the fact that heterozygous crosses yield fewer than 25% homozygotes.

Detailed description

Pale lethal homozygotes are smaller than normal littermates, have a pale light grey skin color, evident at birth, and most die by one week of age, although some have survived to 3 or 4 weeks of age. Some prenatal lethality is implied by the fact that heterozygous crosses yield fewer than 25% homozygotes.

Development

pale lethal arose spontaneously on the C57BL/6J inbred background at The Jackson Laboratory in 2005 and was been maintained on this background. In 2012 sperm was cryopreserved from heterozygous males at generation F16.

Allele

Symbol: Ank1^pale
Name: pale lethal
MGI accession ID: MGI:4367449
Generation method: Spontaneous
Marker symbol: Ank1
Marker name: ankyrin 1, erythroid
Marker synonyms: ANK; Ank-1; ankyrin-1; pale; SPH1; SPH2
Chromosome: 8
Strain of origin: C57BL/6J
Molecular note: This spontaneous mutation was identified at The Jackson Laboratory. Sequence analysis of mutant genomic DNA compared with wild type C57BL/6J genomic DNA identified a single nucleotide transition from G to A at nucleotide 24224235 (build NCBI37 or m9). This mutation disrupts the consensus AG dinucleotide of the CAG splice acceptor of the adjacent exon (exon 26 of ENSMUST00000118733).