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Phenotypes Associated with This Genotype
Genotype
MGI:5688589
Allelic
Composition
Tmprss13tm1Dgen/Tmprss13tm1Dgen
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tmprss13tm1Dgen mutation (1 available); any Tmprss13 mutation (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
integument
N
• surprisingly, newborn homozygotes display normal tight junction formation and profilaggrin processing in the epidermis
• no abnormalities in pelage hair eruption or pelage hair appearance are observed
• newborn homozygotes show a 54% increase in the transepidermal fluid loss rate relative to wild-type controls
• however, no differences in birth weight, postnatal or long term survival are observed
• at birth, homozygotes show a 30% reduction in whisker length relative to wild-type controls; however, this difference is transient, as normal size whiskers are observed in adulthood
• newborn homozygotes show an abnormally compacted stratum corneum, with fewer and smaller intercorneocyte lacunae than wild-type controls, indicating a defect in stratum corneum maturation
• the thickness of neonatal stratum corneum is reduced by 38%, whereas the thickness of the living (basal, spinous and granular/transitional) layer of the epidermis is normal
• however, no abnormalities are observed in the adult stratum corneum

homeostasis/metabolism
N
• blood chemistry analysis revealed no significant changes in the serum levels of alkaline phosphatase, alanine aminotransferase, aspartate aminotransferase, amylase, and creatine kinase, and only a moderate increase in lactate dehydrogenase levels
• newborn homozygotes show a 54% increase in the transepidermal fluid loss rate relative to wild-type controls
• however, no differences in birth weight, postnatal or long term survival are observed


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
06/12/2024
MGI 6.13
The Jackson Laboratory