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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 (23 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
• 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
• 12 week old females have 2.9 oocytes per ovary section compared to 8.5 for wild-type controls
• the epidydymis is devoid of spermatozoa
• seminiferous tubules are devoid of spermatids
• seminiferous tubules are devoid of spermatocytes
• seminiferous tubules are devoid of spermatogonia
• 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
• testis are strikingly smaller than controls

growth/size/body
• 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
• 12 week old females have 2.9 oocytes per ovary section compared to 8.5 for wild-type controls
• the epidydymis is devoid of spermatozoa
• seminiferous tubules are devoid of spermatids
• seminiferous tubules are devoid of spermatocytes
• seminiferous tubules are devoid of spermatogonia
• 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
• testis are strikingly smaller than controls
• females have reduced fertility
• 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




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 (48 available)
Usp1tm1.1Ada mutation (0 available); any Usp1 mutation (23 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
• 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

reproductive system
• female mice have severe atrophy of the ovaries

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Fanconi anemia complementation group D2 DOID:0111083 OMIM:227646
J:146616





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last database update
10/10/2017
MGI 6.10
The Jackson Laboratory