Phenotypes Associated with This Genotype

Genotype
MGI:3838389

• Allelic Composition: Usp1^tm1.1Ada/Usp1^tm1.1Ada
• Genetic Background: C57BL/6-Usp1^tm1.1Ada

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

mortality/aging

increased mortality induced by gamma-irradiation ( J:146616 )

• all mice die to an exposure of 8.25 Gy compared 60-70% of controls

postnatal lethality, incomplete penetrance ( J:146616 )

• 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

decreased oocyte number ( J:146616 )

♀ • 12 week old females have 2.9 oocytes per ovary section compared to 8.5 for wild-type controls

abnormal male germ cell morphology ( J:146616 )

♂

oligozoospermia ( J:146616 )

♂ • the epidydymis is devoid of spermatozoa

abnormal spermatid morphology ( J:146616 )

♂ • seminiferous tubules are devoid of spermatids

abnormal spermatocyte morphology ( J:146616 )

♂ • seminiferous tubules are devoid of spermatocytes

abnormal spermatogonia morphology ( J:146616 )

♂ • seminiferous tubules are devoid of spermatogonia

induced chromosome breakage ( J:146616 )

• 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

seminiferous tubule degeneration ( J:146616 )

♂ • 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

small testis ( J:146616 )

♂ • testis are strikingly smaller than controls

growth/size/body

decreased body weight ( J:146616 )

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

hematopoietic system

decreased bone marrow cell number ( J:146616 )

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

homeostasis/metabolism

cyanosis ( J:146616 )

• most pups become progressively cyanotic and die within 2 hr of birth

edema ( J:146616 )

increased mortality induced by gamma-irradiation ( J:146616 )

• all mice die to an exposure of 8.25 Gy compared 60-70% of controls

reproductive system

decreased oocyte number ( J:146616 )

♀ • 12 week old females have 2.9 oocytes per ovary section compared to 8.5 for wild-type controls

abnormal male germ cell morphology ( J:146616 )

♂

oligozoospermia ( J:146616 )

♂ • the epidydymis is devoid of spermatozoa

abnormal spermatid morphology ( J:146616 )

♂ • seminiferous tubules are devoid of spermatids

abnormal spermatocyte morphology ( J:146616 )

♂ • seminiferous tubules are devoid of spermatocytes

abnormal spermatogonia morphology ( J:146616 )

♂ • seminiferous tubules are devoid of spermatogonia

seminiferous tubule degeneration ( J:146616 )

♂ • 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

small testis ( J:146616 )

♂ • testis are strikingly smaller than controls

reduced female fertility ( J:146616 )

♀ • females have reduced fertility

male infertility ( J:146616 )

♂ • males are sterile with small testis containing seminiferous tubules that are atrophic and mostly devoid of spermatogenic cells

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Fanconi anemia		DOID:13636	OMIM:PS227650	J:146616