C3H/HeSn-Paf/J

Stock number: 001529
Product name: patchy fur
Research areas: Dermatology Research, Reproductive Biology Research, Research Tools

Description

These mice carry the spontaneous Paf mutation and are characterized by a patchy or striped coat in females and a dark, shiny coat in males with eventual hair loss.

Detailed description

Stock No. 001529 mice have the spontaneous Paf mutation on the X Chromosome, and may be genotyped based on the coat phenotype described below.

Heterozygous females (X^Paf/X) have patchy or striped coats.
Hemizygous males (X^Paf/Y) have a dark, shiny coat until hair loss begins between 12 and 30 days of age when the underfur is lost and the coat becomes sparse and bristly.
Homozygous females (X^Paf/X^Paf) initially have a dark shiny coat which looks like that of X^Paf/Y males although less bristly and sparse and appears more striped or patched than heterozygous females.

Due to X-Y nondisjunction, approximately 1% of offspring from Paf/Y males are XXY phenotypic males and 19% are XO phenotypic females.

Development

Paf arose at TJL in the bouncy-3J subline of C3H/HeSnJ and was first recognized as patches of fur missing in the coat of a female. This female was bred with a wildtype brother and 7 females and 5 males out of 37 phenotyped offspring had abnormal coats with the male phenotype being more severe. This was maintained by closed colony breeding, primarily using sibling pairs and in 1991 heterozygous females were bred with C3H/HeSnJ males to generate embryos for cryopreservation.

Allele

Symbol: Paf
Name: patchy fur
MGI accession ID: MGI:1856622
Generation method: Spontaneous
Marker symbol: Paf
Marker name: patchy fur
Chromosome: X
Strain of origin: C3H/HeSn-bc^3J
Molecular note: This mutation comprises an inversion of an X chromosome segment with breakpoints distal to Amel and proximal to the PAR marker DXYHgu1. The mutation in this allele is within a ~0.2 cM interval that includes the boundary of the pseudoautosomal region (PAR), a sequence common to the X and Y chromosomes. As a consequence X-Y nondisjunction occurs in hemizygous males, resulting in XO and XXY progeny.