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.
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 Name||waved 3 Jackson|
|Gene Symbol and Name||Ppp1r13l, protein phosphatase 1, regulatory subunit 13 like|
|Strain of Origin||BALB/cJ|
|General Note||Phenotypic Similarity to Human Syndrome: novel autosomal recessive cardio-cutaneous syndrome (J:264272).|
|Molecular Note||The underlying mutation is a 4 base pair deletion in exon 12.|