BALB/cJ-Ppp1r13l^wa3-J/J

Stock number: 007971
Product name: waved 3 Jackson
Research areas: Cardiovascular Research, Dermatology Research, Developmental Biology Research, Reproductive Biology Research

Description

These mice carry a remutation of the Ppp1r13l gene and are characterized by cardiomyopathy, including abnormal hair and damaged eyes.

Detailed description

Homozygotes have a coat that is sparse but not wavy. They are born with their eyelids open and develop vascular corneas. They also develop early-onset cardiomyopathy, which leads to congestive heart failure. Female homozygotes have not successfully bred and male homozygotes have significantly reduced fertility, producing one or two litters in their lifetime at best.

Development

The waved 3 Jackson mutation arose spontaneously on the BALB/cJ inbred background in 1977 at The Jackson Laboratory and has been maintained on this background ever since.

Allele

Symbol: Ppp1r13l^wa3-J
Name: waved 3 Jackson
MGI accession ID: MGI:3813487
Generation method: Spontaneous
Marker symbol: Ppp1r13l
Marker name: protein phosphatase 1, regulatory subunit 13 like
Chromosome: 7
Strain of origin: BALB/cJ
Molecular note: The underlying mutation is a 4 base pair deletion in exon 12.
General note: Phenotypic Similarity to Human Syndrome: novel autosomal recessive cardio-cutaneous syndrome (J:264272).