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Phenotypes Associated with This Genotype
Genotype
MGI:2182958
Allelic
Composition
Gcdhtm1Dmk/Gcdhtm1Dmk
Genetic
Background
involves: 129S4/SvJae * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gcdhtm1Dmk mutation (1 available); any Gcdh mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body

behavior/neurological
• young mice have difficulty righting themselves when placed on their backs
• impaired motor coordination demonstrated in a rotarod test and a balance beam test

homeostasis/metabolism
• elevated glutaric acid levels and elevated 3-OH glutaric acid levels in urine

renal/urinary system
• elevated glutaric acid levels and elevated 3-OH glutaric acid levels in urine

nervous system
• spongiform myelinopathy; maximal in frontal cortex; also in cerebellar white matter and hippocampus

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
glutaric acidemia I DOID:0111254 OMIM:231670
J:77874


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
02/16/2021
MGI 6.16
The Jackson Laboratory