|
Symbol Name ID |
Fkrp
fukutin related protein MGI:2447586 |
| Darker colors indicate more annotations |
| Human Phenotypes | Dandy-Walker malformation |
Microcephaly |
Facial palsy |
Dysphagia |
Difficulty walking |
Frequent falls |
Hypoplasia of the pons |
Hypoplasia of the brainstem |
Hydrocephalus |
Ventriculomegaly |
Lissencephaly |
Agyria |
Pachygyria |
Type II lissencephaly |
Simplified gyral pattern |
Abnormal cerebral white matter morphology |
Agenesis of corpus callosum |
Agenesis of cerebellar vermis |
Cerebellar hypoplasia |
Cerebellar atrophy |
Cerebellar dysplasia |
Cerebellar cyst |
Intellectual disability |
Intellectual disability, profound |
Hyporeflexia |
Tip-toe gait |
Waddling gait |
Motor delay |
Delayed gross motor development |
| Disease(s) Associated with FKRP | |||||||||||||||||||||||||||||
| autosomal recessive limb-girdle muscular dystrophy type 2I | |||||||||||||||||||||||||||||
| 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 ventricle |
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) |
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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 05/21/2024 MGI 6.23 |
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