About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:5604775
Allelic
Composition
Pepddal/Pepddal
Genetic
Background
involves: C3H/HeJ * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pepddal mutation (1 available); any Pepd mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• average serum testosterone levels at 3 months of age is lower than normal
• dramatic reduction in the size and staining intensity of collagen fibrils in 2-month-old heart sections stained with picrosirius red

cardiovascular system
• dramatic reduction in the size and staining intensity of collagen fibrils in 2-month-old heart sections stained with picrosirius red
• myocytic and myofibrillar disarray can be found in 3 month old homozygotes, indicative of hypertrophic cardiomyopathy
• at E15.5 there is a significant reduction in F-actin levels in the heart, and western blot analysis of cardiomyocytes also shows significant reduction in SRC, Tyr416 phosphorylated SRC, paxillin, and normal PTK2 expression but slighly reduced Tyr397 phosphorylated PTK2
• cardiomyocytes in the interventricular septum in cross sections from adult homozygotes and from E15.5 embryos are larger in diameter than normal and these sections show fewer cells per field of view than normal
• some homozygotes assessed between E12.5 and E18.5 have enlarged endocardial cushions but normal valves and atria
• E15.5 beating cardiomyocytes are larger than normal
• atrial and ventricular septal defects are found in 17% of homozygous hearts between E12.5 and E18.5
• in E15.5 homozygotes the interventricular septum at its midpoint is on average 1.6 fold thicker than normal
• assessment of embryos between E12.5 and E18.5 shows significantly thickened ventricular walls and correspondingly smaller ventricular chambers in 68% of homozygotes

muscle
• myocytic and myofibrillar disarray can be found in 3 month old homozygotes, indicative of hypertrophic cardiomyopathy
• at E15.5 there is a significant reduction in F-actin levels in the heart, and western blot analysis of cardiomyocytes also shows significant reduction in SRC, Tyr416 phosphorylated SRC, paxillin, and normal PTK2 expression but slighly reduced Tyr397 phosphorylated PTK2
• cardiomyocytes in the interventricular septum in cross sections from adult homozygotes and from E15.5 embryos are larger in diameter than normal and these sections show fewer cells per field of view than normal

mortality/aging
• many homozygotes are very small and die within 14 days of birth
• fewer homozygotes than expected are produced from F1 heterozygous intercrosses and E10.5-E18.5 litters were found to have dead or resorbed embryos in 27% of implantation sites

growth/size/body
• 8.1% of live embryos assessed between E10.5 and E18.5 are developmentally delayed

embryo
• 8.1% of live embryos assessed between E10.5 and E18.5 are developmentally delayed

pigmentation
• Background Sensitivity: homozygotes are darkest when young but retain a darkened coat relative to unaffected siblings as they age (J:143333)
• The darkened coat color that makes agouti appear more nonagouit except on the flanks is much darker on the C3H/HeJ mixed background than pure CBA/J (J:215150)

integument
• Background Sensitivity: homozygotes are darkest when young but retain a darkened coat relative to unaffected siblings as they age (J:143333)
• The darkened coat color that makes agouti appear more nonagouit except on the flanks is much darker on the C3H/HeJ mixed background than pure CBA/J (J:215150)

endocrine/exocrine glands
• vacuoles are observed by histology of the testes within the seminiferous tubules and, to a lesser degree, in the interstitial region, first appearing between 1 and 3 months of age and become more numerous in older males
• lipid rafts isolated from homozygous testes at 2 months of age appear normal by western blot for flotillin or caveolin but at 7 months of age they are weak or absent, perhaps as a consequence of vacuolation
• testes from homozygotes tend to be smaller than normal

reproductive system
• vacuoles are observed by histology of the testes within the seminiferous tubules and, to a lesser degree, in the interstitial region, first appearing between 1 and 3 months of age and become more numerous in older males
• lipid rafts isolated from homozygous testes at 2 months of age appear normal by western blot for flotillin or caveolin but at 7 months of age they are weak or absent, perhaps as a consequence of vacuolation
• testes from homozygotes tend to be smaller than normal

nervous system
• at 12 weeks of age 2 of 6 homozygotes display mild vacuolar changes in several regions of the brain including the thalamus, cortex, hippocampus, cerebellum, and pons

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
hypertrophic cardiomyopathy DOID:11984 J:215150


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
05/14/2019
MGI 6.14
The Jackson Laboratory