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Phenotypes Associated with This Genotype
Genotype
MGI:5556062
Allelic
Composition
Fkrptm1Scbr/Fkrptm1Scbr
Sox1tm1(cre)Take/Sox1+
Genetic
Background
involves: C57BL/6NCrlj * CBA/JNCrlj
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fkrptm1Scbr mutation (1 available); any Fkrp mutation (13 available)
Sox1tm1(cre)Take mutation (1 available); any Sox1 mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• fewer than the expected numbers are seen when double heterozygotes are mated to single heterozygous Fkrp mutant mice
• high pre-weaning loss is seen when double heterozygotes are mated together

growth/size/body
• females, but not males, show a reduced body weight at 20 but not at 12 weeks of age

muscle
• macrophages, lymphocytes, and rare plasma cells infiltrate the interstitium and necrotic myofibers
• mice develop a progressive muscular dystrophy
• by 6 weeks of age, occasional areas of small basophilic regenerating fibers and inflammatory infiltrates are see in gastrocnemius muscle
• by 12 weeks of age, the gastrocnemius and diaphragm show fiber degeneration characterized by sarcoplasmic hyalinization, loss of cross striations and sarcoplasmic fragmentation and groups of small, regenerative myofibers with large, centralized nuclei and a granular pale basophilic cytoplasm
• at 30 weeks, muscle fiber degeneration is attenuated and regeneration with clusters of basophilic regenerative fibers is occasionally evident together with rare, interstitial lymphoplasmacytic foci
• however, the soleus muscle shows only minimal damage even at 30 weeks of age
• gastrocnemius and diaphragm muscles show onset of fiber degeneration at around 6 weeks of age

immune system
• macrophages, lymphocytes, and rare plasma cells infiltrate the interstitium and necrotic myofibers

nervous system
• when double heterozygotes are mated together, some homozygous Fkrp offspring exhibit hydrocephalus


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)
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last database update
07/09/2019
MGI 6.14
The Jackson Laboratory