Mouse Genome Informatics
hm
    Fkrptm1Itl/Fkrptm1Itl
involves: 129S6/SvEvTac * C57BL/6N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• one third of mice die at birth or within 2 days
• however, remaining mice survive beyond 6 months
• one third of mice die at birth or within 2 days
• however, remaining mice survive beyond 6 months

muscle
• at 10 weeks
• sarcolemma are less uniform, discontinuous, and lacking a plasma membrane compared to in wild-type mice
• in all skeletal muscles at 5 weeks, including tibialis anterior, quadriceps, gastronemius, intercostals, biceps, and diaphragm
• however, the heart is unaffected
• as early as 2 weeks of age

nervous system
• in the cerebral cortex and cerebellum
• 5 of 6 mice exhibit brains that are smoother than in wild-type mice
• mice exhibit interhemispheric fissure unlike wild-type mice
• folia are distorted and partially fused unlike in wild-type mice
• in 4 of 6 mice
• some mice exhibit duplication of a portion of the dentate gyrus and improper folding unlike in wild-type mice
• however, 3 of 6 mice exhibit normal hippocampal architecture
• the boundary between molecular layers I (MLI) and MLII is obscured unlike in wild-type mice
• cellular components are disorganized near the retina unlike in wild-type mice

vision/eye
• cellular components are disorganized near the retina unlike in wild-type mice
• affected eyes have a haze-like appearance
• the size of eyes varies
• disrupted by ectopic cells outside of the membrane
• disrupted by ectopic cells outside of the membrane

homeostasis/metabolism
N
• mice exhibit normal blood urea nitrogen, alkaline phosphatase, and cholesterol levels (J:164448)
• at 10 weeks

craniofacial
• bulging outwardly
• in more than 50% of mice

growth/size
• throughout adulthood

behavior/neurological

skeleton
• bulging outwardly
• in more than 50% of mice

cellular
• in the cerebral cortex and cerebellum

Mouse Models of Human Disease
OMIM IDRef(s)
Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies), Type A, 5; MDDGA5 613153 J:164448
Muscular Dystrophy-Dystroglycanopathy (congenital with or without Mental Retardation), Type B, 5; MDDGB5 606612 J:164448
Muscular Dystrophy-Dystroglycanopathy (limb-Girdle), Type C, 5; MDDGC5 607155 J:164448