Phenotypes Associated with This Genotype

Genotype
MGI:5582197

• Allelic Composition: Col1a1^{tm3(CAG-IDH2*R140Q)Kkw}/Col1a1⁺; Tmem163^{Tg(ACTB-cre)2Mrt}/0
• Genetic Background: involves: 129S4/SvJae * BALB/c * C57BL/6 * FVB/N

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

premature death ( J:209629 )

• mice that survive the embryonic period die between 3 and 7 weeks of age

embryonic lethality, incomplete penetrance ( J:209629 )

growth/size/body

cardiac hypertrophy ( J:209629 )

decreased body size ( J:209629 )

• surviving mice are runted

cardiovascular system

cardiac hypertrophy ( J:209629 )

behavior/neurological

tremors ( J:209629 )

seizures ( J:209629 )

nervous system

seizures ( J:209629 )

hydrocephaly ( J:209629 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
D-2-hydroxyglutaric aciduria		DOID:0050575	OMIM:PS600721	J:209629