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Phenotypes Associated with This Genotype
Genotype
MGI:3832641
Allelic
Composition
Fktntm1Ttd/Fktntm2(FCMD)Ttd
Genetic
Background
involves: 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fktntm1Ttd mutation (0 available); any Fktn mutation (11 available)
Fktntm2(FCMD)Ttd mutation (0 available); any Fktn mutation (11 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• 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
• 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
N
• despite alpha-dystroglycan hypoglycosylation, no evidence of muscular dystrophy is observed at birth or in older mice
• even after exercise exhaustion, muscle cell membrane permeability is normal

cellular
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/12/2016
MGI 6.04
The Jackson Laboratory