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Phenotypes Associated with This Genotype
Genotype
MGI:3026845
Allelic
Composition
Muttm1Pai/Muttm1Pai
Genetic
Background
involves: 129S1/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Muttm1Pai mutation (0 available); any Mut mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• although homozygotes are born normally and exhibit normal activity and suckling shortly after birth, none of them survive past 24 hrs of age (J:87081)
• although homozygotes are born normally and exhibit normal activity and suckling shortly after birth, none of them survive past 24 hrs of age (J:87081)

behavior/neurological
• homozygotes display reduced/absent milk spots by 15-18 hrs of age (J:87081)
• however, large gastric milk spots are observed shortly after birth (J:87081)
• homozygotes display reduced/absent milk spots by 15-18 hrs of age (J:87081)
• however, large gastric milk spots are observed shortly after birth (J:87081)
• homozygotes stop suckling by 15-18 hrs of age (J:87081)
• homozygotes stop suckling by 15-18 hrs of age (J:87081)
• although homozygotes are initially vigorous, they show a gradual decrease in activity by 15-18 hrs of age (J:87081)
• although homozygotes are initially vigorous, they show a gradual decrease in activity by 15-18 hrs of age (J:87081)

homeostasis/metabolism
• newborn homozygotes show a ~6-fold increase in mean circulating propionylcarnitine (C3) levels relative to wild-type and heterozygous controls (J:87081)
• ratios of propionylcarnitine to free carnitine (C3:C0) and to acetylcarnitine (C3:C2) are ~7-fold higher than in controls (J:87081)
• blood levels of free carnitine (CO) and acetylcarnitine (C2) remain normal (J:87081)
• newborn homozygotes show a ~6-fold increase in mean circulating propionylcarnitine (C3) levels relative to wild-type and heterozygous controls (J:87081)
• ratios of propionylcarnitine to free carnitine (C3:C0) and to acetylcarnitine (C3:C2) are ~7-fold higher than in controls (J:87081)
• blood levels of free carnitine (CO) and acetylcarnitine (C2) remain normal (J:87081)
• urinary levels of methylmalonic and methylcitric acids are grossly increased, as shown by gas chromatography-mass spectrometry (J:87081)
• urinary levels of methylmalonic acid are grossly elevated shortly after birth, with progressive accumulation at various time points prior to death (J:87081)
• however, no evidence of ketonuria is observed (J:87081)
• urinary levels of methylmalonic and methylcitric acids are grossly increased, as shown by gas chromatography-mass spectrometry (J:87081)
• urinary levels of methylmalonic acid are grossly elevated shortly after birth, with progressive accumulation at various time points prior to death (J:87081)
• however, no evidence of ketonuria is observed (J:87081)

renal/urinary system
• urinary levels of methylmalonic and methylcitric acids are grossly increased, as shown by gas chromatography-mass spectrometry (J:87081)
• urinary levels of methylmalonic acid are grossly elevated shortly after birth, with progressive accumulation at various time points prior to death (J:87081)
• however, no evidence of ketonuria is observed (J:87081)
• urinary levels of methylmalonic and methylcitric acids are grossly increased, as shown by gas chromatography-mass spectrometry (J:87081)
• urinary levels of methylmalonic acid are grossly elevated shortly after birth, with progressive accumulation at various time points prior to death (J:87081)
• however, no evidence of ketonuria is observed (J:87081)

respiratory system
• homozygotes exhibit intermittent gasping prior to death (J:87081)
• homozygotes exhibit intermittent gasping prior to death (J:87081)

liver/biliary system
• at 20 hrs (but not at 12 hrs) of age, homozygotes display a moderate fatty change in liver parenchyma (J:87081)
• at 20 hrs (but not at 12 hrs) of age, homozygotes display a moderate fatty change in liver parenchyma (J:87081)


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory