B6.MRL-Krt90^whnl/GrsrJ

Stock number: 024690
Product name: witch nails
Research areas: Dermatology Research, Developmental Biology Research

Description

The witch nails mutation provides novel insight into the function of this gene.

Detailed description

Witch nail homozygotes develop very long toenails on all digits by 2 months of age. The nail bed is normal but the nail is thickened and elongated. X-rays of 5 homozygotes indicated the presence of additional caudal vertebrae in some but not all mutants.

Development

The witch nails mutation arose spontaneously in the MRL/MpJ-Fas^lpr/J strain at The Jackson Laboratory in 2001. This mutation was backcrossed onto the C57BL/6J background and sperm was cryopreserved from homozygous males at generation N5.

Allele

Symbol: Krt90^whnl
Name: witch nails
MGI accession ID: MGI:3526848
Generation method: Spontaneous
Attributes: Not Specified
Marker symbol: Krt90
Marker name: keratin 90
Marker synonyms: 4732456N10Rik; HBA; Kb15; KRT124P; KRTHBP1
Chromosome: 15
Strain of origin: MRL/MpJ-Fas^lpr/J
Molecular note: This spontaneous 7 base pair duplication insertion of AGCCTGT in exon 9 causes a serine to arginine substitution at amino acid 476 followed by a frameshift leading to 36 novel amino acids and then a premature stop codon.