Phenotypes Associated with This Genotype

Genotype
MGI:2680904

• Allelic Composition: Abcd1^tm1Kds/Abcd1^tm1Kds
• Genetic Background: involves: 129/Sv * 129S4/SvJae * C57BL/6J

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

behavior/neurological

abnormal motor coordination/balance ( J:75388 )

♀ • evident between 15 and 20 months of age

impaired coordination ( J:75388 )

♀ • on rotarod test, evident between 15 and 20 months of age

decreased vertical activity ( J:75388 )

♀ • reduced rearing, evident between 15 and 20 months of age

nervous system

abnormal Schwann cell morphology ( J:75388 )

♀ • evident at 16 months of age, enlarged processes contained myelin-like figures

axon degeneration ( J:75388 )

♀ • evident at 16 months of age, in CNS

abnormal myelination ( J:75388 )

♀ • evident at 16 months of age, in CNS, white matter had redundant sheaths that failed to contact axons and in PNS, focal hypermyelination of sciatic nerves

abnormal nerve conduction ( J:75388 )

♀ • evident at 15 months of age, increased latency of compound muscle action potential

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
adrenoleukodystrophy		DOID:10588	OMIM:300100	J:75388