Phenotypes Associated with This Genotype

Genotype
MGI:5614073

• Allelic Composition: Rad50^tm4.1Jpt/Rad50⁺
• Genetic Background: involves: 129/Sv * C57BL/6

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

liver/biliary system

increased liver tumor incidence ( J:209141 )

• multiple liver neoplasms are seen in 37% of mice

• most affected mice present hyperplastic nodules and/or adenomas

increased hepatoblastoma incidence ( J:209141 )

• malignant hepatoblastomas are seen in 10% of mice

increased liver adenoma incidence ( J:209141 )

reproductive system

ovary atrophy ( J:209141 )

♀

abnormal seminiferous tubule morphology ( J:209141 )

♂ • severely reduced cellularity

small testis ( J:209141 )

♂ • 2-fold smaller than in mutant mice heterozygous for Atm^tm1Awb

testicular atrophy ( J:209141 )

♂

abnormal gametogenesis ( J:209141 )

♂

abnormal sperm number ( J:209141 )

♂ • decrease in the number of meiotic cells

abnormal spermatogenesis ( J:209141 )

♂ • increase in the number of primitive precursors, decrease in the number of meiotic cells and no increase in cell death is consistent with a block in spematogonial differentiation

abnormal fertility/fecundity ( J:209141 )

female infertility ( J:209141 )

♀ • 27% of females are infertile

reduced female fertility ( J:209141 )

♀ • 73% of females produce fewer and smaller litters

decreased litter size ( J:209141 )

♀ • 73% of females produce fewer and smaller litters

male infertility ( J:209141 )

♂ • all males are infertile

hematopoietic system

impaired hematopoiesis ( J:209141 )

• a 50% reduction in the colony forming ability of multipotent precursors

abnormal hematopoietic stem cell morphology ( J:209141 )

• altered LSK population with an expansion of the multipotent precursors

• no increase in proximal descendants of the multipotent precursors is detected

nervous system

hydrocephaly ( J:209141 )

• in 27% of mice

neoplasm

increased liver tumor incidence ( J:209141 )

• multiple liver neoplasms are seen in 37% of mice

• most affected mice present hyperplastic nodules and/or adenomas

increased hepatoblastoma incidence ( J:209141 )

• malignant hepatoblastomas are seen in 10% of mice

increased liver adenoma incidence ( J:209141 )

pigmentation

increased foot pad pigmentation ( J:209141 )

increased tail pigmentation ( J:209141 )

increased skin pigmentation ( J:209141 )

• intense skin hyperpigmentation

endocrine/exocrine glands

ovary atrophy ( J:209141 )

♀

abnormal seminiferous tubule morphology ( J:209141 )

♂ • severely reduced cellularity

small testis ( J:209141 )

♂ • 2-fold smaller than in mutant mice heterozygous for Atm^tm1Awb

testicular atrophy ( J:209141 )

♂

limbs/digits/tail

increased foot pad pigmentation ( J:209141 )

increased tail pigmentation ( J:209141 )

integument

increased foot pad pigmentation ( J:209141 )

increased tail pigmentation ( J:209141 )

increased skin pigmentation ( J:209141 )

• intense skin hyperpigmentation