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Phenotypes Associated with This Genotype
Genotype
MGI:4834522
Allelic
Composition
Fkrptm1Itl/Fkrptm1Itl
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fkrptm1Itl mutation (0 available); any Fkrp mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• one third of mice die at birth or within 2 days (J:164448)
• however, remaining mice survive beyond 6 months (J:164448)
• one third of mice die at birth or within 2 days (J:164448)
• however, remaining mice survive beyond 6 months (J:164448)
• one third of mice die at birth or within 2 days (J:164448)
• however, remaining mice survive beyond 6 months (J:164448)
• one third of mice die at birth or within 2 days (J:164448)
• however, remaining mice survive beyond 6 months (J:164448)

muscle
• sarcolemma are less uniform, discontinuous, and lacking a plasma membrane compared to in wild-type mice (J:164448)
• sarcolemma are less uniform, discontinuous, and lacking a plasma membrane compared to in wild-type mice (J:164448)
• at 5 weeks (J:164448)
• at 5 weeks (J:164448)
• at 5 weeks (J:164448)
• at 5 weeks (J:164448)
• at 5 weeks (J:164448)
• at 5 weeks (J:164448)
• at 5 weeks (J:164448)
• at 5 weeks (J:164448)
• at 10 weeks (J:164448)
• at 10 weeks (J:164448)
• in all skeletal muscles at 5 weeks, including tibialis anterior, quadriceps, gastronemius, intercostals, biceps, and diaphragm (J:164448)
• however, the heart is unaffected (J:164448)
• in all skeletal muscles at 5 weeks, including tibialis anterior, quadriceps, gastronemius, intercostals, biceps, and diaphragm (J:164448)
• however, the heart is unaffected (J:164448)
• as early as 2 weeks of age (J:164448)
• as early as 2 weeks of age (J:164448)

nervous system
• in the cerebral cortex and cerebellum (J:164448)
• in the cerebral cortex and cerebellum (J:164448)
• 5 of 6 mice exhibit brains that are smoother than in wild-type mice (J:164448)
• mice exhibit interhemispheric fissure unlike wild-type mice (J:164448)
• 5 of 6 mice exhibit brains that are smoother than in wild-type mice (J:164448)
• mice exhibit interhemispheric fissure unlike wild-type mice (J:164448)
• folia are distorted and partially fused unlike in wild-type mice (J:164448)
• folia are distorted and partially fused unlike in wild-type mice (J:164448)
• in 4 of 6 mice (J:164448)
• in 4 of 6 mice (J:164448)
• some mice exhibit duplication of a portion of the dentate gyrus and improper folding unlike in wild-type mice (J:164448)
• however, 3 of 6 mice exhibit normal hippocampal architecture (J:164448)
• some mice exhibit duplication of a portion of the dentate gyrus and improper folding unlike in wild-type mice (J:164448)
• however, 3 of 6 mice exhibit normal hippocampal architecture (J:164448)
• the boundary between molecular layers I (MLI) and MLII is obscured unlike in wild-type mice (J:164448)
• the boundary between molecular layers I (MLI) and MLII is obscured unlike in wild-type mice (J:164448)
• cellular components are disorganized near the retina unlike in wild-type mice (J:164448)
• cellular components are disorganized near the retina unlike in wild-type mice (J:164448)

vision/eye
• cellular components are disorganized near the retina unlike in wild-type mice (J:164448)
• cellular components are disorganized near the retina unlike in wild-type mice (J:164448)
• affected eyes have a haze-like appearance (J:164448)
• affected eyes have a haze-like appearance (J:164448)
• the size of eyes varies (J:164448)
• the size of eyes varies (J:164448)
• disrupted by ectopic cells outside of the membrane (J:164448)
• disrupted by ectopic cells outside of the membrane (J:164448)
• disrupted by ectopic cells outside of the membrane (J:164448)
• disrupted by ectopic cells outside of the membrane (J:164448)

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

craniofacial
• bulging outwardly (J:164448)
• bulging outwardly (J:164448)
• in more than 50% of mice (J:164448)
• in more than 50% of mice (J:164448)

growth/size/body
• throughout adulthood (J:164448)
• throughout adulthood (J:164448)

behavior/neurological

skeleton
• bulging outwardly (J:164448)
• bulging outwardly (J:164448)
• in more than 50% of mice (J:164448)
• in more than 50% of mice (J:164448)

cellular
• in the cerebral cortex and cerebellum (J:164448)
• in the cerebral cortex and cerebellum (J:164448)


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory