Phenotypes Associated with This Genotype

Genotype
MGI:5512998

• Allelic Composition: Cd320^{Gt(CC0426)Wtsi}/Cd320^{Gt(CC0426)Wtsi}
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

reproductive system

decreased litter size ( J:199961 )

homeostasis/metabolism

increased circulating homocysteine level ( J:199961 )

• increased 1.6- and 1.2-fold at 20 and 52 weeks, respectively

abnormal vitamin homeostasis ( J:199961 )

• increased cystathionine in the brain (especially in the cerebellum and spinal cord)

• increased homocysteine in the brain

increased methylmalonic acid level ( J:199961 )

• increased methylmalonic acid in the brain (highest levels in the cerebellum and spinal cord)

increased circulating methylmalonic acid level ( J:199961 )

• increased methylmalonic acid 2.9- and 4.9-fold in the serum at 20 and 52 weeks, respectively

abnormal vitamin B12 level ( J:199961 )

• moderately increased at 3, 8 and 20 weeks in the serum

• failure to exhibit a decrease in the liver and kidney at 20 weeks

• small decrease in the spleen at 8 and 20 weeks

• decreased in the brain at 3 weeks and further at 8 and 20 weeks

• decreased in the spinal cord

hematopoietic system

hematopoietic system phenotype ( J:199961 )

N • mice do not exhibit anemia

decreased leukocyte cell number ( J:199961 )

• in older mice

immune system

decreased leukocyte cell number ( J:199961 )

• in older mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
methylmalonic acidemia due to transcobalamin receptor defect		DOID:0060741	OMIM:613646	J:199961