Fkrp Phenotype Annotations

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Fkrp
fukutin related protein
MGI:2447586

73 phenotypes from 7 alleles in 8 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Fkrp^tm1.1Pg/Fkrp^tm1.1Pg involves: 129P2/OlaHsd	abnormal skeletal muscle fiber morphology	J:285924
	abnormal skeletal muscle fiber type ratio	J:285924
	normal cardiovascular system phenotype	J:285924
	increased skeletal muscle fiber diameter	J:285924
	increased skeletal muscle fiber size	J:285924
	normal liver/biliary system phenotype	J:285924
	myopathy	J:285924
	normal renal/urinary system phenotype	J:285924
	skeletal muscle fibrosis	J:285924
Fkrp^tm1.1Pg/Fkrp^tm1.2Pg involves: 129P2/OlaHsd * FVB/N	abnormal skeletal muscle fiber morphology	J:285924
Fkrp^tm1.1Scbr/Fkrp^tm1.1Scbr involves: C57BL/6 * FVB/N	no abnormal phenotype detected	J:164634
Fkrp^tm1.2Pg/Fkrp^tm1.2Pg involves: 129P2/OlaHsd * FVB/N	embryonic lethality prior to tooth bud stage, complete penetrance	J:285924
Fkrp^tm1Itl/Fkrp^tm1Itl involves: 129S6/SvEvTac * C57BL/6N	abnormal brain morphology	J:164448
	abnormal brainstem morphology	J:164448
	abnormal cerebellar foliation	J:164448
	abnormal dentate gyrus morphology	J:164448
	abnormal eye size	J:164448
	abnormal neuronal migration	J:164448
	abnormal optic disk morphology	J:164448
	abnormal retina ganglion layer morphology	J:164448
	abnormal retina inner limiting membrane morphology	J:164448
	abnormal skeletal muscle fiber morphology	J:164448
	abnormal stratification in cerebral cortex	J:164448
	centrally nucleated skeletal muscle fibers	J:164448
	cornea opacity	J:164448
	decreased birth body size	J:164448
	decreased body weight	J:164448
	dilated lateral ventricle	J:164448
	domed cranium	J:164448
	dystrophic muscle	J:164448
	normal homeostasis/metabolism phenotype	J:164448
	hydrocephaly	J:164448
	increased circulating alanine transaminase level	J:164448
	increased circulating creatine kinase level	J:164448
	increased variability of skeletal muscle fiber size	J:164448
	limb grasping	J:164448
	muscle weakness	J:164448
	neonatal lethality, incomplete penetrance	J:164448
	optic nerve hypoplasia	J:164448
	parietal bossing	J:164448
	postnatal lethality, incomplete penetrance	J:164448
	skeletal muscle fiber degeneration	J:164448
	skeletal muscle fiber necrosis	J:164448
	skeletal muscle fibrosis	J:164448
	thin retina inner nuclear layer	J:164448
	thin retina outer nuclear layer	J:164448
Fkrp^tm1Qll/Fkrp^tm1Qll Not Specified	embryonic lethality during organogenesis, complete penetrance	J:164448
Fkrp^tm1Scbr/? Not Specified	abnormal brain pia mater morphology	J:258757
	abnormal Cajal-Retzius cell morphology	J:258757
	abnormal cerebellar hemisphere morphology	J:258757
	abnormal cerebellum external granule cell layer morphology	J:258757
	abnormal cortical marginal zone morphology	J:258757
	abnormal cortical plate morphology	J:258757
	abnormal dentate gyrus morphology	J:258757
	abnormal inferior colliculus morphology	J:258757
	abnormal meninges morphology	J:258757
	abnormal neocortex morphology	J:258757
	abnormal radial glial cell morphology	J:258757
	abnormal superior colliculus morphology	J:258757
	abnormal tectum morphology	J:258757
	dilated lateral ventricle	J:258757
	ectopic neuron	J:258757
	hydrocephaly	J:258757
Fkrp^tm1Scbr/Fkrp^tm1Scbr involves: C57BL/6	abnormal cerebral cortex morphology	J:164634
	abnormal extensor digitorum longus morphology	J:164634
	abnormal radial glial cell morphology	J:164634
	abnormal tibialis anterior morphology	J:164634
	abnormal vitreous body morphology	J:164634
	centrally nucleated skeletal muscle fibers	J:164634
	decreased body weight	J:164634
	decreased skeletal muscle fiber number	J:164634
	edema	J:164634
	perinatal lethality, complete penetrance	J:164634
Fkrp^tm1Scbr/Fkrp^tm1Scbr Sox1^tm1(cre)Take/Sox1⁺ involves: C57BL/6NCrlj * CBA/JNCrlj	centrally nucleated skeletal muscle fibers	J:207119
	decreased body weight	J:207119
	dystrophic muscle	J:207119
	hydrocephaly	J:207119
	muscle degeneration	J:207119
	myositis	J:207119
	postnatal lethality, incomplete penetrance	J:207119
Fkrp^tvrm53/Fkrp^tvrm53 C57BL/6J-Fkrp^tvrm53/Pjn	abnormal b-wave amplitude	J:243745
	abnormal cone electrophysiology	J:243745
	abnormal Muller cell morphology	J:243745
	abnormal retina inner nuclear layer morphology	J:243745
	abnormal retina vasculature morphology	J:243745
	centrally nucleated skeletal muscle fibers	J:243745
	dystrophic muscle	J:243745
	increased a-wave amplitude	J:243745
	thin retina inner nuclear layer	J:243745
	thin retina outer nuclear layer	J:243745
	vitreal fibroplasia	J:243745

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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