Analysis Tools
reproductive system
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• mutant ovaries consist predominantly of interstitial cells
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• mutant ovaries contain few or almost no mature follicles
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• male homozygotes display atrophic seminiferous tubules with significantly reduced spermatogenesis; some tubuli mainly have Sertoli cells
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• mutant testes display diffuse hyperplasia of Leydig cells
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• mutant testes exhibit seminiferous tubules with normal spermatogenesis next to abnormal tubules with markedly reduced spermatogenesis
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small gonad
(
J:63742
)
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• both male and female homozygotes exhibit hypogonadism
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• female homozygotes cease breeding between 10 and 21 weeks of age
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• male homozygotes stop breeding after ~20 weeks of age, with the majority becoming completely infertile
• occasionally, some males regain reproductivity after a non-reproductive period of several months
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endocrine/exocrine glands
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• mutant ovaries consist predominantly of interstitial cells
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• mutant ovaries contain few or almost no mature follicles
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• male homozygotes display atrophic seminiferous tubules with significantly reduced spermatogenesis; some tubuli mainly have Sertoli cells
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• mutant testes display diffuse hyperplasia of Leydig cells
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hematopoietic system
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• at ~20 weeks of age, homozygotes display a slight increase in mean cell volume, suggestive of macrocytic red cells
• however, all other hematological parameters, including total erythrocyte counts and hemoglobin levels, remain normal and no progression to anemia is observed up to 1 year
• attempts to stress the hematopoietic system by splenectomy do not result in anemia or reduced blood cell counts
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• at ~20 weeks of age, homozygotes show a slight reduction in platelet count; however, no further decrease is noted over time
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cellular
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• homozygous mutant MEFs are hyper-responsive to the clastogenic effect of the crosslinker mitomycin C, with most cells containing >10 aberrations after treatment
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• homozygous mutant MEFs exhibit increased spontaneous chromosomal instability, with 22% of cells exhibiting aberrations vs 4% of wild-type MEFs
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skeleton
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• homozygotes display no skeletal abnormalities, as shown by radiology
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Fanconi anemia complementation group A | DOID:0111095 |
OMIM:227650 |
J:63742 | |
