About   Help   FAQ
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 (21 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
• 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
• sarcolemma are less uniform, discontinuous, and lacking a plasma membrane compared to in wild-type mice
• at 10 weeks
• 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

craniofacial
• outward bulging of the parietal bone
• in more than 50% of mice

growth/size/body
• throughout adulthood

behavior/neurological

skeleton
• outward bulging of the parietal bone
• in more than 50% of mice

cellular
• in the cerebral cortex and cerebellum


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
03/12/2024
MGI 6.23
The Jackson Laboratory