Mouse Genome Informatics
hm
    Muttm1Cpv/Muttm1Cpv
Not Specified
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• mice die between 24 and 36 hours after birth with respiratory distress

homeostasis/metabolism
• at E16.5 and in newborn mice, levels of plasma methylmalonic acid are higher than in wild-type mice
• at 8 to 12 hours of age, mice exhibit methylmalonic acidemia unlike wild-type mice
• 24 hours after birth, mice exhibit a reduction in the stomach milk spot and dehydration unlike wild-type mice
• at 8 to 12 hours of age, mice exhibit methylmalonic aciduria unlike wild-type mice

respiratory system
• in 2 of 8 mice
• 24 and 36 hours after birth

liver/biliary system
• at 24 to 36 hours after birth, mice exhibit non-necrotic lipidotic changes in the liver unlike in wild-type mice

nervous system
• the brain appears compressed against the dura mater unlike in wild-type mice

renal/urinary system
• at 8 to 12 hours of age, mice exhibit methylmalonic aciduria unlike wild-type mice

cardiovascular system
• in 2 of 8 mice

Mouse Models of Human Disease
OMIM IDRef(s)
Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency 251000 J:147338