Phenotypes Associated with This Genotype

Genotype
MGI:3055854

• Allelic Composition: Ercc1^tm2Jhjh/Ercc1^tm2Jhjh
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

mortality/aging

increased susceptibility to xenobiotic induced morbidity/mortality ( J:41161 )

• DMBA exposure induces death by 3 days post exposure unlike wild-type littermates

premature death ( J:41161 )

• Background Sensitivity: mutants live about 6 months on a mixed 129P2/OlaHsd/C57BL/6 background, however life spans are shorter on a mixed 129P2/OlaHsd/FVB background

embryonic lethality during organogenesis, incomplete penetrance ( J:41161 )

• many embryos die by E13.5

• Background Sensitivity: embryonic lethality is not seen on a mixed 129P2/OlaHsd and FVB background

adipose tissue

decreased subcutaneous adipose tissue amount ( J:41161 )

• subcutaneous fat is absent

cellular

decreased cell proliferation ( J:41161 )

• primary MEFs proliferate more slowly and stop growing sooner compared to wild-type MEFs

growth/size/body

decreased body size ( J:41161 )

• homozygotes are severely runted

• on a mixed 129P2/OlasHsd/C57BL/6 background males are more severely runted than females, this difference is not seen on a mixed 129P2/OlaHsd/FVB background

hematopoietic system

abnormal spleen morphology ( J:41161 )

• increased and early ferritin deposition is seen without evidence of haemochromatosis

homeostasis/metabolism

increased susceptibility to xenobiotic induced morbidity/mortality ( J:41161 )

• DMBA exposure induces death by 3 days post exposure unlike wild-type littermates

increased physiological sensitivity to xenobiotic ( J:41161 )

• DMBA exposure induces massive epidermal necrosis with minimal leukocyte infiltration unlike wild-type littermates

immune system

abnormal spleen morphology ( J:41161 )

• increased and early ferritin deposition is seen without evidence of haemochromatosis

liver/biliary system

abnormal hepatocyte morphology ( J:41161 )

• nuclear abnormalities are seen in the liver

renal/urinary system

dilated renal tubule ( J:41161 )

• dilated tubules containing leaked proteinaceous material are seen

reproductive system

infertility ( J:41161 )

• homozygotes that reach the age of 6 months are infertile

integument

decreased subcutaneous adipose tissue amount ( J:41161 )

• subcutaneous fat is absent

thin skin ( J:41161 )