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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Muttm1Pai
targeted mutation 1, Panayiotis A Ioannou
MGI:3026839
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Muttm1Pai/Muttm1Pai involves: 129S1/Sv * C57BL/6 MGI:3026845
cx2
Muttm1Pai/Muttm1Pai
Tg(MUT*R403X)#Hlps/0
involves: 129S1/Sv * C57BL/6 MGI:5464284
cx3
Muttm1Pai/Muttm1Pai
Tg(MUT)AHlps/0
Tg(MUT*R403X)#Hlps/0
involves: 129S1/Sv * C57BL/6 MGI:5464285


Genotype
MGI:3026845
hm1
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 (10 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

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

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

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

respiratory system
• homozygotes exhibit intermittent gasping prior to death

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




Genotype
MGI:5464284
cx2
Allelic
Composition
Muttm1Pai/Muttm1Pai
Tg(MUT*R403X)#Hlps/0
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 (10 available)
Tg(MUT*R403X)#Hlps mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

homeostasis/metabolism
• high methylmalonic acid in the liver, brain and kidney prior to birth with no increase after birth
• increased C3 propionylcarnitine in the urine and blood 1 day prior to birth, at birth and at 16 hours
• high methylmalonic acid in the blood
• high methylmalonic acid in the urine

renal/urinary system
• high methylmalonic acid in the urine




Genotype
MGI:5464285
cx3
Allelic
Composition
Muttm1Pai/Muttm1Pai
Tg(MUT)AHlps/0
Tg(MUT*R403X)#Hlps/0
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 (10 available)
Tg(MUT)AHlps mutation (0 available)
Tg(MUT*R403X)#Hlps mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• high methylmalonic acid in the urine, blood, liver, kidney, brain and muscle at 6 weeks
• increased C3 propionylcarnitine in the urine and blood 1 day prior to birth, at birth and at 16 hours
• high methylmalonic acid in the blood at 6 weeks, but not as much as in Muttm1Pai/Muttm1Pai Tg(MUT*R403X)#Hlps mice
• high methylmalonic acid in the urine at 6 weeks
• mice have occasional episodes of sickness (decreased movement, hunched over and ruffled fur) from which they recover within 2 hours of treatment with a liquid mixture of ground up food pellet and baby formula and placement on a heat pad
• however, feeding mice this diet during the first part of life prevents these episodes

growth/size/body
• more so in female mice
• more so in female mice

liver/biliary system
• at 2 years

renal/urinary system
• high methylmalonic acid in the urine at 6 weeks





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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory