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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pdha1tm1Ptl
targeted mutation 1, Mulchand S Patel
MGI:2386703
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Pdha1tm1Ptl/Y
Tg(Nes-cre)1Kln/0
involves: 129P2/OlaHsd * C57BL/6 * FVB/N * SJL MGI:3843822
cn2
Pdha1tm1Ptl/Pdha1tm1Ptl
Tg(Nes-cre)1Kln/0
involves: 129P2/OlaHsd * C57BL/6 * FVB/N * SJL MGI:3843824
cn3
Pdha1tm1Ptl/Pdha1tm1Ptl
Tg(Zp3-cre)93Knw/0
involves: 129P2/OlaHsd * C57BL/6J MGI:3843840
cn4
Pdha1tm1Ptl/Y
Tg(Ckmm-cre)5Khn/0
involves: 129P2/OlaHsd * FVB MGI:3843870
cn5
Pdha1tm1Ptl/Pdha1+
Tg(Ckmm-cre)5Khn/0
involves: 129P2/OlaHsd * FVB MGI:3843872


Genotype
MGI:3843822
cn1
Allelic
Composition
Pdha1tm1Ptl/Y
Tg(Nes-cre)1Kln/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * FVB/N * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pdha1tm1Ptl mutation (1 available); any Pdha1 mutation (24 available)
Tg(Nes-cre)1Kln mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging




Genotype
MGI:3843824
cn2
Allelic
Composition
Pdha1tm1Ptl/Pdha1tm1Ptl
Tg(Nes-cre)1Kln/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * FVB/N * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pdha1tm1Ptl mutation (1 available); any Pdha1 mutation (24 available)
Tg(Nes-cre)1Kln mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 50% fewer than expected mice are born

nervous system
• white matter structures of the forebrain including the commissural anterior (pars anterior), lateral olfactory tract, and corpus callosum are smaller and underdeveloped
• small and underdeveloped
• the size of the cerebellar peduncles are smaller than in wild-type mice
• the nucleus caudatus/putamen exhibit irregular local heterotopias and fibers are less organized and of smaller diameter than in wild-type mice
• the stria medullaris is smaller and has fewer fibers than in wild-type mice
• neurons within the nuclei paraventricularis and anterodorsalis are reduced in density and number compared to in wild-type mice
• pyramidal cells are not arranged in a tight cellular layer as in wild-type mice
• 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
• the lateral olfactory tract is smaller and underdeveloped
• the granule cell layer is reduced in an irregular pattern
• small with fewer fibers
• the cerebellar nuclei within the white matter exhibits local heterotopias and distributed neuropil




Genotype
MGI:3843840
cn3
Allelic
Composition
Pdha1tm1Ptl/Pdha1tm1Ptl
Tg(Zp3-cre)93Knw/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pdha1tm1Ptl mutation (1 available); any Pdha1 mutation (24 available)
Tg(Zp3-cre)93Knw mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• 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
• oocytes have fewer polar bodies than in wild-type mice
• some oocytes exhibit chromatin and spindle abnormalities with or without formation of polar bodies
• 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
• 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

cellular
• 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
• oocytes have fewer polar bodies than in wild-type mice
• some oocytes exhibit chromatin and spindle abnormalities with or without formation of polar bodies
• 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
• 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




Genotype
MGI:3843870
cn4
Allelic
Composition
Pdha1tm1Ptl/Y
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129P2/OlaHsd * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pdha1tm1Ptl mutation (1 available); any Pdha1 mutation (24 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 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

cardiovascular system
• compared to in heterozygous female mice and wild-type mice
• whether mice are fed a high fat or laboratory chow diet, the left ventricular diastolic dimension is increased compared to in wild-type mice
• whether fed a high fat or laboratory chow diet, mice exhibit reduced fractional shortening compared to in heterozygous female mice and wild-type mice

homeostasis/metabolism

growth/size/body
• at 9 weeks of age

muscle
• compared to in heterozygous female mice and wild-type mice
• whether fed a high fat or laboratory chow diet, mice exhibit reduced fractional shortening compared to in heterozygous female mice and wild-type mice




Genotype
MGI:3843872
cn5
Allelic
Composition
Pdha1tm1Ptl/Pdha1+
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129P2/OlaHsd * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pdha1tm1Ptl mutation (1 available); any Pdha1 mutation (24 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• mice exhibit increased heart weight compared to in wild-type mice
• however, heart weight to body weight is normal
• 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
• when transitioned from a high fat diet to a rodent laboratory diet, mice exhibit reduced fractional shortening compared to in wild-type mice

growth/size/body
• mice exhibit increased heart weight compared to in wild-type mice
• however, heart weight to body weight is normal
• at 9 weeks of age

homeostasis/metabolism

muscle
• 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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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory