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Symbol
Name
ID
Fkrp
fukutin related protein
MGI:2447586
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Microcephaly
Posterior fossa cyst
Dandy-Walker malformation
Meningoencephalocele
Occipital encephalocele
Facial palsy
Optic nerve hypoplasia
Difficulty walking
Frequent falls
Hypoplasia of the pons
Hypoplasia of the brainstem
Lissencephaly
Agyria
Pachygyria
Type II lissencephaly
Polymicrogyria
Abnormality of the cerebral white matter
Agenesis of corpus callosum
Hypoplasia of the corpus callosum
Cerebellar hypoplasia
Cerebellar atrophy
Cerebellar dysplasia
Cerebellar malformation
Cerebellar cyst
Hydrocephalus
Ventriculomegaly
Excessive daytime sleepiness
Hyporeflexia
Toe walking
Waddling gait
Intellectual disability
Intellectual disability, profound
Intellectual disability, severe
Global developmental delay
Motor delay
Delayed gross motor development
Seizures
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
abnormal radial glial cell morphology
abnormal neuronal migration
abnormal brain morphology
abnormal cortical marginal zone morphology
abnormal Cajal-Retzius cell morphology
abnormal cortical plate morphology
abnormal cerebellar foliation
abnormal cerebellum external granule cell layer morphology
hydrocephaly
dilated lateral ventricles
abnormal brainstem morphology
abnormal tectum morphology
abnormal inferior colliculus morphology
abnormal superior colliculus morphology
abnormal dentate gyrus morphology
abnormal cerebral cortex morphology
abnormal neocortex morphology
abnormal stratification in cerebral cortex
abnormal cerebellar hemisphere morphology
abnormal Muller cell morphology
abnormal meninges morphology
abnormal brain pia mater morphology
ectopic neuron
abnormal optic disk morphology
optic nerve hypoplasia
Availability Mouse Genotype
Fkrptm1Itl/Fkrptm1Itl
Fkrptm1Scbr/Fkrptm1Scbr
Fkrptvrm53/Fkrptvrm53
Fkrptm1Scbr/?
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
08/13/2019
MGI 6.14
The Jackson Laboratory