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Phenotypes Associated with This Genotype
Genotype
MGI:6157365
Allelic
Composition
Mmuttm1Pai/Mmuttm1.1Mrb
Genetic
Background
involves: 129S1/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mmuttm1.1Mrb mutation (0 available); any Mmut mutation (2 available)
Mmuttm1Pai mutation (0 available); any Mmut mutation (2 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
• propionylcarnitine (normalized to acetylcarnitine) in blood is constantly elevated
• mice fed a HP or PE diet show further elevations in propionylcarnitine levels
• mice exhibit elevated glycine levels in blood
• however, other amino acid levels are mostly unchanged
• 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
• increase in plasma urea
• 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 exhibit elevated glycine levels in blood
• however, other amino acid levels are mostly unchanged
• 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
• however, water intake is not different from controls
• mice produce less urine during adulthood than controls, when normalized for body weight

mortality/aging
N
• mice exhibit a normal life span


Contributing Projects:
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
03/24/2020
MGI 6.15
The Jackson Laboratory