Phenotypes associated with this allele

• Allele Symbol: Fkrp^tm1.1Pg
• Allele Name: targeted mutation 1.1, PolyGene AG
• Allele ID: MGI:6404009
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fkrp^tm1.1Pg/Fkrp^tm1.1Pg	involves: 129P2/OlaHsd	MGI:6404021
ht2	Fkrp^tm1.1Pg/Fkrp^tm1.2Pg	involves: 129P2/OlaHsd * FVB/N	MGI:6404028

Genotype
MGI:6404021

hm1

• Allelic Composition: Fkrp^tm1.1Pg/Fkrp^tm1.1Pg
• Genetic Background: involves: 129P2/OlaHsd

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

muscle

abnormal skeletal muscle fiber morphology ( J:285924 )

• tibialis anterior and quadriceps show increased internally nucleated fibers, with EDLs showing a greater increase

• EDLs show a 1.6% increase in the number of internally nucleated fibers at 6 months and 2.8% increase at 12 months

• however, sarcolemmal and basal membrane integrity appear normal

increased skeletal muscle fiber size ( J:285924 )

• areas of individual myofibers are increased in muscles of 6 and 20 month old mice, with a greater increase at 20 months

increased skeletal muscle fiber diameter ( J:285924 )

• diameter of myofibers is increased in muscles of 6 and 20 month old mice, with no difference in diameter between the two ages

abnormal skeletal muscle fiber type ratio ( J:285924 )

• MHC IIB fiber type is higher in 20 month old mice

skeletal muscle fibrosis ( J:285924 )

• fibrosis is increased in myofibers of 6 and 20 month old mice, with no difference in the level of fibrosis between the two ages

myopathy ( J:285924 )

• mice show signs of myopathy at 12, but not 6, months of age, with internally nucleated fibers and evidence of past and ongoing regeneration and fibrosis

cardiovascular system

cardiovascular system phenotype ( J:285924 )

N • hearts appear normal with no fibrosis

liver/biliary system

liver/biliary system phenotype ( J:285924 )

N • liver appears normal

renal/urinary system

renal/urinary system phenotype ( J:285924 )

N • kidney appears normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive limb-girdle muscular dystrophy type 2I		DOID:0110299	OMIM:607155	J:285924

Genotype
MGI:6404028

ht2

• Allelic Composition: Fkrp^tm1.1Pg/Fkrp^tm1.2Pg
• Genetic Background: involves: 129P2/OlaHsd * FVB/N

muscle

abnormal skeletal muscle fiber morphology ( J:285924 )

• tibialis anterior and quadriceps show increased internally nucleated fibers, with EDLs showing a greater increase

• EDLs show a 1.6% increase in the number of internally nucleated fibers at 5 months of age