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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Usp1tm1.1Ada
targeted mutation 1.1, Alan D D'Andrea
MGI:3838373
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Usp1tm1.1Ada/Usp1tm1.1Ada C57BL/6-Usp1tm1.1Ada MGI:3838389
cx2
Fancd2Gt(OST57859)Lex/Fancd2Gt(OST57859)Lex
Usp1tm1.1Ada/Usp1tm1.1Ada
involves: 129S5/SvEvBrd * C57BL/6 MGI:3838391


Genotype
MGI:3838389
hm1
Allelic
Composition
Usp1tm1.1Ada/Usp1tm1.1Ada
Genetic
Background
C57BL/6-Usp1tm1.1Ada
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Usp1tm1.1Ada mutation (0 available); any Usp1 mutation (11 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• all mice die to an exposure of 8.25 Gy compared 60-70% of controls (J:146616)
• all mice die to an exposure of 8.25 Gy compared 60-70% of controls (J:146616)
• 80% of mice die within 2 days of birth with the majority dying within a couple of hours of birth (J:146616)
• pups found dead display several abnormalities with incomplete penetrance including cyanosis, bilateral hydronephrosis, and hemorrhagic edema (J:146616)
• 80% of mice die within 2 days of birth with the majority dying within a couple of hours of birth (J:146616)
• pups found dead display several abnormalities with incomplete penetrance including cyanosis, bilateral hydronephrosis, and hemorrhagic edema (J:146616)

cellular
• embryonic fibroblasts are sensitive to mitomycin C treatment (MMC) with almost half the cells displaying radial chromosomes compared about 5 % of controls (J:146616)
• this treatment causes increased accumulation of cells at the G2/M phase and lower rates of survival compared to controls (J:146616)
• bone marrow cell are also hypersensitive to MMC (J:146616)
• embryonic fibroblasts are sensitive to mitomycin C treatment (MMC) with almost half the cells displaying radial chromosomes compared about 5 % of controls (J:146616)
• this treatment causes increased accumulation of cells at the G2/M phase and lower rates of survival compared to controls (J:146616)
• bone marrow cell are also hypersensitive to MMC (J:146616)

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)
• 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)
• testis are strikingly smaller than controls (J:146616)

growth/size/body
• mice are consistently smaller than littermate controls from E13 through adulthood (J:146616)
• mice are consistently smaller than littermate controls from E13 through adulthood (J:146616)

hematopoietic system
• mice have lower number of bone marrow cells in the hind-limb compared to controls (J:146616)
• mice have lower number of bone marrow cells in the hind-limb compared to controls (J:146616)

homeostasis/metabolism
• most pups become progressively cyanotic and die within 2 hr of birth (J:146616)
• most pups become progressively cyanotic and die within 2 hr of birth (J:146616)
• all mice die to an exposure of 8.25 Gy compared 60-70% of controls (J:146616)
• all mice die to an exposure of 8.25 Gy compared 60-70% of controls (J:146616)

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)
• 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)
• 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)
• 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)
• the epidydymis is devoid of spermatozoa (J:146616)
• seminiferous tubules are devoid of spermatids (J:146616)
• seminiferous tubules are devoid of spermatids (J:146616)
• seminiferous tubules are devoid of spermatocytes (J:146616)
• seminiferous tubules are devoid of spermatocytes (J:146616)
• seminiferous tubules are devoid of spermatogonia (J:146616)
• seminiferous tubules are devoid of spermatogonia (J:146616)
• females have reduced fertility (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)
• males are sterile with small testis containing seminiferous tubules that are atrophic and mostly devoid of spermatogenic cells (J:146616)




Genotype
MGI:3838391
cx2
Allelic
Composition
Fancd2Gt(OST57859)Lex/Fancd2Gt(OST57859)Lex
Usp1tm1.1Ada/Usp1tm1.1Ada
Genetic
Background
involves: 129S5/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fancd2Gt(OST57859)Lex mutation (0 available); any Fancd2 mutation (15 available)
Usp1tm1.1Ada mutation (0 available); any Usp1 mutation (11 available)
phenotype observed in females
phenotype observed in males
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 (J:146616)
• bone marrow cells have decreased survival after exposure to ionizing radiation compared to controls that are homozygote null for just one allele (J:146616)
• 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 (J:146616)
• 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 (J:146616)

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

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

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





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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory