Phenotypes Associated with This Genotype

Genotype
MGI:2654820

• Allelic Composition: Aebp1^tm1Mdl/Aebp1^tm1Mdl
• Genetic Background: involves: 129S2/SvPas * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

decreased survivor rate ( J:70416 )

• only 6.6% of homozygous mutants survive to weaning /adulthood

perinatal lethality, incomplete penetrance ( J:70416 )

• most mutants die around birth from gastroschisis, but 6.6% of homozygous mutants survive to weaning

growth/size/body

herniated abdominal wall ( J:70416 )

• extrusion of intestines, and often the liver, into amniotic cavity

• detected as early as E13.5

digestive/alimentary system

abnormal intestine morphology ( J:70416 )

• intestines are absent in some mutants

limbs/digits/tail

curly tail ( J:70416 )

• frequently have a bent or looped tail

kinked tail ( J:70416 )

• frequently have a bent or looped tail

liver/biliary system

abnormal liver morphology ( J:70416 )

• liver is absent in some mutants

homeostasis/metabolism

impaired wound healing ( J:70416 )

• mutants show a reduction in the rate or extent of healing after a 3-mm dermal punch biopsy

cellular

decreased cell proliferation ( J:70416 )

• isolated dermal fibroblasts from E18.5 embryo skin exhibit a lower proliferation rate than controls

integument

skin lesions ( J:70416 )

• the few mutants that survive to adulthood exhibit skin lesions