Phenotypes Associated with This Genotype

Genotype
MGI:3055853

• Allelic Composition: Ercc1^tm1Jhjh/Ercc1^tm1Jhjh
• Genetic Background: involves: C57BL/6 * FVB/N

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

mortality/aging

lethality at weaning, complete penetrance ( J:92471 )

• mutants die around 3 weeks of age from liver failure

hematopoietic system

decreased B cell proliferation ( J:92471 )

• B cell proliferation is reduced to 76% wild-type

abnormal class switch recombination ( J:92471 )

• class switching recombination for IgG1, IgG2a, IgG2b, IgG3, and IgA is reduced 20-55%

• the mutation spectra and location are altered in GL Smu segments

spleen hypoplasia ( J:92471 )

• at P19-21 spleen contain 10-fold fewer cells

immune system

decreased B cell proliferation ( J:92471 )

• B cell proliferation is reduced to 76% wild-type

abnormal class switch recombination ( J:92471 )

• class switching recombination for IgG1, IgG2a, IgG2b, IgG3, and IgA is reduced 20-55%

• the mutation spectra and location are altered in GL Smu segments

spleen hypoplasia ( J:92471 )

• at P19-21 spleen contain 10-fold fewer cells

liver/biliary system

abnormal liver physiology ( J:92471 )

• liver failure is seen

cellular

decreased B cell proliferation ( J:92471 )

• B cell proliferation is reduced to 76% wild-type