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Allele Symbol Allele Name Allele ID |
Pdha1tm1Ptl targeted mutation 1, Mulchand S Patel MGI:2386703 |
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| Summary |
5 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 50% fewer than expected mice are born
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• at P35
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• white matter structures of the forebrain including the commissural anterior (pars anterior), lateral olfactory tract, and corpus callosum are smaller and underdeveloped
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• small and underdeveloped
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• the size of the cerebellar peduncles are smaller than in wild-type mice
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• the nucleus caudatus/putamen exhibit irregular local heterotopias and fibers are less organized and of smaller diameter than in wild-type mice
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• the stria medullaris is smaller and has fewer fibers than in wild-type mice
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• neurons within the nuclei paraventricularis and anterodorsalis are reduced in density and number compared to in wild-type mice
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• pyramidal cells are not arranged in a tight cellular layer as in wild-type mice
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• the thickness of neocortex is reduced with irregularly distributed sites of disturbed cytoarchitecture compared to in wild-type mice
• some mice exhibit neurons clustered in local heterotopia or as single layers with a lower neuronal density in the surrounding areas unlike in wild-type mice
• neuropils appear to have fewer than expected fibers
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• the lateral olfactory tract is smaller and underdeveloped
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• the granule cell layer is reduced in an irregular pattern
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• small with fewer fibers
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• the cerebellar nuclei within the white matter exhibits local heterotopias and distributed neuropil
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• oocytes have fewer polar bodies than in wild-type mice
• fewer oocytes at found at the surrounded nucleolus stage than in wild-type oocytes
• more oocytes in the cumulus-oocyte complexes are at the germinal vesicle or abnormal germinal vesicle breakdown stage than in wild-type mice
• following removal of cumulus cells, a higher proportion of oocytes are at the germinal vesicle or abnormal germinal vesicle breakdown stage compared to similarly treated wild-type oocytes
• oocytes exhibit worsening energy status during meiotic maturation unlike wild-type oocytes
• however, oocyte size is normal
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• oocytes have fewer polar bodies than in wild-type mice
• some oocytes exhibit chromatin and spindle abnormalities with or without formation of polar bodies
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• oocytes are atypical of any developmental stage unlike wild-type oocytes that are at metaphase of meiosis I or meiosis II
• some oocytes have highly condensed chromatin and absence of spindle structures unlike wild-type oocytes
• some oocytes exhibit chromatin that is eccentrically located with only occasional evidence of discrete chromosomes or clumps of chromatin unlike in wild-type oocytes
• some oocytes exhibit chromatin and spindle abnormalities with or without formation of polar bodies unlike wild-type oocytes
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• some oocytes have highly condensed chromatin and absence of spindle structures
• some oocytes exhibit chromatin and spindle abnormalities with or without formation of polar bodies
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• oocytes have fewer polar bodies than in wild-type mice
• fewer oocytes at found at the surrounded nucleolus stage than in wild-type oocytes
• more oocytes in the cumulus-oocyte complexes are at the germinal vesicle or abnormal germinal vesicle breakdown stage than in wild-type mice
• following removal of cumulus cells, a higher proportion of oocytes are at the germinal vesicle or abnormal germinal vesicle breakdown stage compared to similarly treated wild-type oocytes
• oocytes exhibit worsening energy status during meiotic maturation unlike wild-type oocytes
• however, oocyte size is normal
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• oocytes have fewer polar bodies than in wild-type mice
• some oocytes exhibit chromatin and spindle abnormalities with or without formation of polar bodies
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• oocytes are atypical of any developmental stage unlike wild-type oocytes that are at metaphase of meiosis I or meiosis II
• some oocytes have highly condensed chromatin and absence of spindle structures unlike wild-type oocytes
• some oocytes exhibit chromatin that is eccentrically located with only occasional evidence of discrete chromosomes or clumps of chromatin unlike in wild-type oocytes
• some oocytes exhibit chromatin and spindle abnormalities with or without formation of polar bodies unlike wild-type oocytes
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• some oocytes have highly condensed chromatin and absence of spindle structures
• some oocytes exhibit chromatin and spindle abnormalities with or without formation of polar bodies
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• when weaned onto rodent laboratory chow, male mice die 7 days after weaning
• when mice are weaned onto a high fat diet, male mice die 12 days after switching from a high fat diet to rodent laboratory chow
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• compared to in heterozygous female mice and wild-type mice
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• whether mice are fed a high fat or laboratory chow diet, the left ventricular diastolic dimension is increased compared to in wild-type mice
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• whether fed a high fat or laboratory chow diet, mice exhibit reduced fractional shortening compared to in heterozygous female mice and wild-type mice
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• at 9 weeks of age
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• compared to in heterozygous female mice and wild-type mice
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• whether fed a high fat or laboratory chow diet, mice exhibit reduced fractional shortening compared to in heterozygous female mice and wild-type mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice exhibit increased heart weight compared to in wild-type mice
• however, heart weight to body weight is normal
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• when mice are transitioned from a high fat diet to a rodent laboratory diet, the left ventricular diastolic dimension is increased compared to in wild-type mice
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• when transitioned from a high fat diet to a rodent laboratory diet, mice exhibit reduced fractional shortening compared to in wild-type mice
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• mice exhibit increased heart weight compared to in wild-type mice
• however, heart weight to body weight is normal
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• at 9 weeks of age
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• when transitioned from a high fat diet to a rodent laboratory diet, mice exhibit reduced fractional shortening compared to in wild-type mice
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 05/07/2024 MGI 6.23 |
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