Phenotypes associated with this allele

• Allele Symbol: Bcat2^m1Ytc
• Allele Name: mutation 1, Yuan-Tsong Chen
• Allele ID: MGI:3028726
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Bcat2^m1Ytc/Bcat2^m1Ytc	C57BL/6J-Bcat2^m1Ytc	MGI:3028730

Genotype
MGI:3028730

hm1

• Allelic Composition: Bcat2^m1Ytc/Bcat2^m1Ytc
• Genetic Background: C57BL/6J-Bcat2^m1Ytc

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

mortality/aging

premature death ( J:87589 )

• mice die within 4 months of age

preweaning lethality, incomplete penetrance ( J:87589 )

• many die prior to weaning

behavior/neurological

weakness ( J:87589 )

• ameliorated with a branched-chain amino acid restricted diet

bradykinesia ( J:87589 )

• ameliorated with a branched-chain amino acid restricted diet

growth/size/body

decreased body weight ( J:87589 )

• body weight is 30-40% less than unaffected siblings

• ameliorated with a branched-chain amino acid restricted diet

homeostasis/metabolism

abnormal circulating amino acid level ( J:87589 )

• elevated levels of branched-chain amino acids, with most striking elevations in valine, leucine, and isoleucine

• ameliorated with a branched-chain amino acid restricted diet

ketoaciduria ( J:87589 )

• branched-chain alpha-keto acids, 2-oxoisovaleric acid, 2-oxoisocaproic acid, and 2-oxo-3-methylvaleric acid are present in the urine

renal/urinary system

ketoaciduria ( J:87589 )

• branched-chain alpha-keto acids, 2-oxoisovaleric acid, 2-oxoisocaproic acid, and 2-oxo-3-methylvaleric acid are present in the urine

integument

sparse hair ( J:87589 )

thin hair shaft ( J:87589 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
maple syrup urine disease		DOID:9269	OMIM:246900 OMIM:248600 OMIM:615135	J:87589