Mouse Genome Informatics
ht
    Fktntm1Ttd/Fktntm2(FCMD)Ttd
involves: 129S7/SvEvBrd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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 (J:144746)
• even after exercise exhaustion, muscle cell membrane permeability is normal (J:144746)

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

Mouse Models of Human Disease
OMIM IDRef(s)
Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies), Type A, 4; MDDGA4 253800 J:144746
Muscular Dystrophy-Dystroglycanopathy (congenital without Mental Retardation), Type B, 4; MDDGB4 613152 J:144746