Mouse Genome Informatics
hm1
    Usp1tm1.1Ada/Usp1tm1.1Ada
C57BL/6-Usp1tm1.1Ada
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• all mice die to an exposure of 8.25 Gy compared 60-70% of controls
• 80% of mice die within 2 days of birth with the majority dying within a couple of hours of birth
• pups found dead display several abnormalities with incomplete penetrance including cyanosis, bilateral hydronephrosis, and hemorrhagic edema

cellular
• embryonic fibroblasts are sensitive to mitomycin C treatment (MMC) with almost half the cells displaying radial chromosomes compared about 5 % of controls
• this treatment causes increased accumulation of cells at the G2/M phase and lower rates of survival compared to controls
• bone marrow cell are also hypersensitive to MMC

endocrine/exocrine glands
• cells within the seminiferous tubules have the same (or higher) rate of proliferation as controls one day after birth but 3 and 16 weeks after proliferation there are less cells and they are not proliferating (J:146616)
• testis are strikingly smaller than controls (J:146616)

growth/size
• mice are consistently smaller than littermate controls from E13 through adulthood

hematopoietic system
• mice have lower number of bone marrow cells in the hind-limb compared to controls

homeostasis/metabolism
• most pups become progressively cyanotic and die within 2 hr of birth
• all mice die to an exposure of 8.25 Gy compared 60-70% of controls

reproductive system
• cells within the seminiferous tubules have the same (or higher) rate of proliferation as controls one day after birth but 3 and 16 weeks after proliferation there are less cells and they are not proliferating (J:146616)
• testis are strikingly smaller than controls (J:146616)
• 12 week old females have 2.9 oocytes per ovary section compared to 8.5 for wild-type controls (J:146616)
• the epidydymis is devoid of spermatozoa (J:146616)
• seminiferous tubules are devoid of spermatids (J:146616)
• seminiferous tubules are devoid of spermatocytes (J:146616)
• seminiferous tubules are devoid of spermatogonia (J:146616)
• females have reduced fertility (J:146616)
• males are sterile with small testis containing seminiferous tubules that are atrophic and mostly devoid of spermatogenic cells (J:146616)


Mouse Genome Informatics
cx2
    Fancd2Gt(OST57859)Lex/Fancd2Gt(OST57859)Lex
Usp1tm1.1Ada/Usp1tm1.1Ada

involves: 129S5/SvEvBrd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
cellular
• bone marrow cells have decreased survival after exposure to ionizing radiation compared to controls that are homozygote null for just one allele
• bone marrow cell are also hypersensitive to mitomycin C treatment (MMC) with with increased numbers of chromosome breaks and decreased survival compared to controls that are homozygote null for just one allele

endocrine/exocrine glands
• female mice have severe atrophy of the ovaries (J:146616)

reproductive system
• female mice have severe atrophy of the ovaries (J:146616)

Mouse Models of Human Disease
OMIM IDRef(s)
Fanconi Anemia, Complementation Group D2; FANCD2 227646 J:146616