Phenotypes Associated with This Genotype

Genotype
MGI:5829468

• Allelic Composition: Bckdk^{Gt(OST79912)Lex}/Bckdk^{Gt(OST79912)Lex}
• Genetic Background: involves: 129S5/SvEvBrd

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

homeostasis/metabolism

abnormal amino acid level ( J:238065 )

• mice show a reduction in brain branched-chain amino acid (BCAA) levels, and a marked increase in brain levels of several other large neutral amino acids (LNAAs)

abnormal circulating amino acid level ( J:238065 )

• mice show reduced serum BCAA levels

abnormal amino acid metabolism ( J:238065 )

• mice show abnormal activation of the amino acid response (AAR) signal transduction pathway in the brain

behavior/neurological

abnormal behavior ( J:238065 )

• mice exhibit autism-like phenotypes

impaired coordination ( J:238065 )

• mice show increased latency to cross the beam in the walking beam test

abnormal gait ( J:238065 )

short stride length ( J:238065 )

• mice show decreased stride length in the footprint test

decreased vertical activity ( J:238065 )

• rearing is significantly reduced

decreased locomotor activity ( J:238065 )

• mice show reduced explorative behavior and lower velocity in an open field test

abnormal social investigation ( J:238065 )

• in the three chamber sociability test, P55-P65 mice fail to show preference for an unfamiliar caged wild-type mouse over a caged object, unlike controls

nervous system

nervous system phenotype ( J:238065 )

N • brain neurotransmitter levels (dopamine, serotonin) are normal

decreased miniature inhibitory postsynaptic current frequency ( J:238065 )

• mice show a marked reduction in the frequency of mIPSCs in somatosensory cortex layers 2-3 pyramidal neurons

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:238065