Mouse Genome Informatics
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• deficient germinative stroma
• presence of spermatidic giant cells
• 73% of young (1.5-4 mo) and 83% of older (7-10 mo) female mice were sterile
• 40% of young (1.5-4 mo) and 67% of older (7-10 mo) male mice were sterile
• successful matings of homozygous mutant and wild-type mice yielded litters of reduced size

endocrine/exocrine glands
• deficient germinative stroma

hematopoietic system
• normal hematocrit, hemoglobin, erythrocyte, leukocyte, and platelet counts through 9 mo of age
• pre-B colony forming units are decreased compared to controls
• in 8 week old, but not older, mice
• following stimulation with TNF-alpha and CCL3/MIP1alpha, immature and differentiated myeloid hematopoietic cells exhibit increased apoptosis compared with controls
• 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

• in hematopoietic progenitor cells

Mouse Models of Human Disease
Fanconi Anemia, Complementation Group C; FANCC 227645 J:32080