Phenotypes Associated with This Genotype

Genotype
MGI:3832641

• Allelic Composition: Fktn^tm1Ttd/Fktn^tm2(FCMD)Ttd
• Genetic Background: involves: 129S7/SvEvBrd

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

homeostasis/metabolism

abnormal enzyme/coenzyme activity ( J:144746 )

• mice exhibit hypoglycosylation of alpha-dystroglycan compared to in wild-type mice

• however, glycosylation of alpha-dystrophan can be restored by ectopic expression of LARGE

• laminin-binding activity of alpha-dystroglycan is 50% of normal

nervous system

abnormal neuronal migration ( J:144746 )

• a few mice exhibit a very small ectopic cluster of neurons migrating into the marginal zone are observed unlike in wild-type mice

• however, brain morphology is otherwise normal

muscle

muscle phenotype ( J:144746 )

N • despite alpha-dystroglycan hypoglycosylation, no evidence of muscular dystrophy is observed at birth or in older mice

N • even after exercise exhaustion, muscle cell membrane permeability is normal

cellular

abnormal neuronal migration ( J:144746 )

• a few mice exhibit a very small ectopic cluster of neurons migrating into the marginal zone are observed unlike in wild-type mice

• however, brain morphology is otherwise normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Fukuyama congenital muscular dystrophy		DOID:0050559	OMIM:253800	J:144746
muscular dystrophy-dystroglycanopathy type B1		DOID:0050588	OMIM:613155	J:144746