Phenotypes Associated with This Genotype

Genotype
MGI:2450130

• Allelic Composition: Fancc^tm1Mab/Fancc^tm1Mab
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

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

reproductive system

abnormal reproductive system morphology ( J:32080 )

abnormal ovary morphology ( J:32080 )

♀ • deficient germinative stroma

absent corpus luteum ( J:32080 )

♀

impaired ovarian folliculogenesis ( J:32080 )

♀

seminiferous tubule degeneration ( J:32080 )

♂

testicular atrophy ( J:32080 )

♂

arrest of spermatogenesis ( J:32080 )

♂ • presence of spermatidic giant cells

abnormal fertility/fecundity ( J:32080 )

female infertility ( J:32080 )

♀ • 73% of young (1.5-4 mo) and 83% of older (7-10 mo) female mice were sterile

male infertility ( J:32080 )

♂ • 40% of young (1.5-4 mo) and 67% of older (7-10 mo) male mice were sterile

reduced fertility ( J:32080 )

• successful matings of homozygous mutant and wild-type mice yielded litters of reduced size

decreased litter size ( J:32080 )

endocrine/exocrine glands

abnormal ovary morphology ( J:32080 )

♀ • deficient germinative stroma

absent corpus luteum ( J:32080 )

♀

impaired ovarian folliculogenesis ( J:32080 )

♀

seminiferous tubule degeneration ( J:32080 )

♂

testicular atrophy ( J:32080 )

♂

hematopoietic system

hematopoietic system phenotype ( J:32080 )

N • normal hematocrit, hemoglobin, erythrocyte, leukocyte, and platelet counts through 9 mo of age

decreased common myeloid progenitor cell number ( J:71134 )

abnormal common lymphocyte progenitor cell morphology ( J:71134 )

• pre-B colony forming units are decreased compared to controls

thrombocytopenia ( J:71134 )

• in 8 week old, but not older, mice

abnormal hematopoietic system physiology ( J:47897 )

• following stimulation with TNF-alpha and CCL3/MIP1alpha, immature and differentiated myeloid hematopoietic cells exhibit increased apoptosis compared with controls

abnormal hematopoietic stem cell physiology ( J:47897 )

• hematopoietic progenitors exhibit increased sensitivity to methylmethanesulfonate and multiple inhibitory cytokines (IFN-gamma, TNF-alpha, and CCL3/MIP1alpha) compared with similarly treated control cells

• cultured hematopoietic progenitor cells exhibit increased suicide compared with control cells

cellular

increased cellular sensitivity to methylmethanesulfonate ( J:47897 )

• in hematopoietic progenitor cells

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Fanconi anemia complementation group C		DOID:0111087	OMIM:227645	J:32080