Mouse Genome Informatics
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
reproductive system
• deficient germinative stroma (J:32080)
• presence of spermatidic giant cells (J:32080)
• 73% of young (1.5-4 mo) and 83% of older (7-10 mo) female mice were sterile (J:32080)
• 40% of young (1.5-4 mo) and 67% of older (7-10 mo) male mice were sterile (J:32080)
• successful matings of homozygous mutant and wild-type mice yielded litters of reduced size

endocrine/exocrine glands
• deficient germinative stroma (J:32080)

hematopoietic system
• normal hematocrit, hemoglobin, erythrocyte, leukocyte, and platelet counts through 9 mo of age (J:32080)
• in 8 week old, but not older, mice
• pre-B colony forming units are decreased compared to controls
• 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

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

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