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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 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Muttm1Pai/Muttm1Pai involves: 129S1/Sv * C57BL/6 MGI:3026845
ht2
Muttm1Pai/Muttm1.1Mrb involves: 129S1/Sv * C57BL/6 MGI:6157365
cx3
Muttm1Pai/Muttm1Pai
Tg(MUT*R403X)#Hlps/0
involves: 129S1/Sv * C57BL/6 MGI:5464284
cx4
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 (15 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:6157365
ht2
Allelic
Composition
Muttm1Pai/Muttm1.1Mrb
Genetic
Background
involves: 129S1/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Muttm1.1Mrb mutation (0 available); any Mut mutation (15 available)
Muttm1Pai mutation (0 available); any Mut mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• females show a 30% difference in body weight from wild-type mice at about 1 year of age
• however, food intake remains constant
• mice fed a high protein (HP) diet or a precursor-enriched (PE) diet comprised of increased levels of precursor amino acids of propionate pathway metabolites exhibit a rapid weight loss, with more pronounced weight loss on the PE diet
• mice fed a high protein diet and treated with cobalamin show a slight protective effect, with a delay in weight loss, although increases in metabolite levels still occur
• mice show significant growth retardation after the age of about 100 days in females and about 150 days in males

homeostasis/metabolism
• mice exhibit elevated glycine levels in blood
• however, other amino acid levels are mostly unchanged
• propionylcarnitine (normalized to acetylcarnitine) in blood is constantly elevated
• mice fed a HP or PE diet show further elevations in propionylcarnitine levels
• increase in plasma urea
• mice fed a HP or PE diet show increased ammonia levels, indicative of metabolic crisis induction
• however, mice fed a regular chow diet exhibit normal ammonia levels
• mice exhibit increased levels of odd chain fatty acids in plasma, including the 17-carbon chain length fatty acid
• however, levels of even chain fatty acids are normal
• mice exhibit an elevation of odd chain length sphingoid bases in plasma and tissues
• however, levels of even chain sphingoid bases remains normal
• methylmalonic acid levels are elevated in tissues and dried blood
• however, mice show normal ammonia levels
• mice fed a HP or PE diet show further elevations in methylmalonic acid levels
• methylmalonic acid levels in urine are constantly elevated
• mice fed a HP or PE diet show further elevations in methylmalonic acid levels

nervous system
• mice show increased levels of the biomarker lipocalin-2 in the brain
• increase in brain weight at 1 month and 1 year of age
• however, brain histology is normal in the basal ganglia
• mice fed a HP or PE diet show increased brain weight (normalized to body weight)
• mice fed a high protein diet and treated with cobalamin show a slight protective effect, with no increase in brain weight, although increases in metabolite levels still occur

renal/urinary system
• methylmalonic acid levels in urine are constantly elevated
• mice fed a HP or PE diet show further elevations in methylmalonic acid levels
• mice show increased levels of the biomarker lipocalin-2 in kidney tissue indicating kidney damage
• mice exhibit disturbed excretion of several electrolytes in urine, indicating renal tubular dysfunction
• mice produce less urine during adulthood than controls, when normalized for body weight
• however, water intake is not different from controls

mortality/aging
N
• mice exhibit a normal life span




Genotype
MGI:5464284
cx3
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 (15 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
cx4
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 (15 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
06/05/2018
MGI 6.12
The Jackson Laboratory