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Symbol
Name
ID
Fkrp
fukutin related protein
MGI:2447586
Phenotype annotations related to muscle
Darker colors indicate more annotations
Human Phenotypes
Congenital contracture
Achilles tendon contracture
Facial palsy
Macroglossia
Calf muscle hypertrophy
Thigh hypertrophy
Shoulder girdle muscle weakness
Shoulder girdle muscle atrophy
Pelvic girdle muscle weakness
Reduced muscle fiber alpha dystroglycan
Reduced muscle fiber merosin
Proximal amyotrophy
Muscular dystrophy
Congenital muscular dystrophy
EMG: myopathic abnormalities
Muscular hypotonia
Generalized hypotonia
Neonatal hypotonia
Severe muscular hypotonia
Difficulty climbing stairs
Difficulty running
Difficulty walking
Frequent falls
Muscle spasm
Generalized muscle weakness
Proximal muscle weakness
Disease(s) Associated with FKRP
autosomal recessive limb-girdle muscular dystrophy type 2I
congenital muscular dystrophy-dystroglycanopathy type A1
congenital muscular dystrophy-dystroglycanopathy type A5
muscular dystrophy-dystroglycanopathy type B5

Mouse Phenotypes
skeletal muscle fiber necrosis
myositis
abnormal skeletal muscle fiber morphology
increased variability of skeletal muscle fiber size
centrally nucleated skeletal muscle fibers
decreased skeletal muscle fiber number
skeletal muscle fiber degeneration
abnormal extensor digitorum longus morphology
abnormal tibialis anterior morphology
skeletal muscle fibrosis
dystrophic muscle
muscle degeneration
muscle weakness
Availability Mouse Genotype
Fkrptm1Itl/Fkrptm1Itl
Fkrptm1Scbr/Fkrptm1Scbr
Fkrptvrm53/Fkrptvrm53
Fkrptm1Scbr/Fkrptm1Scbr
Sox1tm1(cre)Take/Sox1+  (conditional)

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