Phenotypes Associated with This Genotype

Genotype
MGI:4834522

• Allelic Composition: Fkrp^tm1Itl/Fkrp^tm1Itl
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6N

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:164448 )

• one third of mice die at birth or within 2 days

• however, remaining mice survive beyond 6 months

postnatal lethality, incomplete penetrance ( J:164448 )

• one third of mice die at birth or within 2 days

• however, remaining mice survive beyond 6 months

muscle

abnormal skeletal muscle fiber morphology ( J:164448 )

• sarcolemma are less uniform, discontinuous, and lacking a plasma membrane compared to in wild-type mice

increased variability of skeletal muscle fiber size ( J:164448 )

• at 5 weeks

centrally nucleated skeletal muscle fibers ( J:164448 )

• at 5 weeks

skeletal muscle fiber degeneration ( J:164448 )

• at 5 weeks

skeletal muscle fiber necrosis ( J:164448 )

• at 5 weeks

skeletal muscle fibrosis ( J:164448 )

• at 10 weeks

dystrophic muscle ( J:164448 )

• in all skeletal muscles at 5 weeks, including tibialis anterior, quadriceps, gastronemius, intercostals, biceps, and diaphragm

• however, the heart is unaffected

muscle weakness ( J:164448 )

• as early as 2 weeks of age

nervous system

abnormal neuronal migration ( J:164448 )

• in the cerebral cortex and cerebellum

abnormal brain morphology ( J:164448 )

• 5 of 6 mice exhibit brains that are smoother than in wild-type mice

• mice exhibit interhemispheric fissure unlike wild-type mice

abnormal cerebellar foliation ( J:164448 )

• folia are distorted and partially fused unlike in wild-type mice

hydrocephaly ( J:164448 )

• in 4 of 6 mice

dilated lateral ventricle ( J:164448 )

abnormal brainstem morphology ( J:164448 )

abnormal dentate gyrus morphology ( J:164448 )

• some mice exhibit duplication of a portion of the dentate gyrus and improper folding unlike in wild-type mice

• however, 3 of 6 mice exhibit normal hippocampal architecture

abnormal stratification in cerebral cortex ( J:164448 )

• the boundary between molecular layers I (MLI) and MLII is obscured unlike in wild-type mice

abnormal optic disk morphology ( J:164448 )

• cellular components are disorganized near the retina unlike in wild-type mice

optic nerve hypoplasia ( J:164448 )

vision/eye

abnormal optic disk morphology ( J:164448 )

• cellular components are disorganized near the retina unlike in wild-type mice

optic nerve hypoplasia ( J:164448 )

cornea opacity ( J:164448 )

• affected eyes have a haze-like appearance

abnormal eye size ( J:164448 )

• the size of eyes varies

abnormal retina inner limiting membrane morphology ( J:164448 )

• disrupted by ectopic cells outside of the membrane

abnormal retina ganglion layer morphology ( J:164448 )

• disrupted by ectopic cells outside of the membrane

thin retina inner nuclear layer ( J:164448 )

thin retina outer nuclear layer ( J:164448 )

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:164448 )

N • mice exhibit normal blood urea nitrogen, alkaline phosphatase, and cholesterol levels

increased circulating alanine transaminase level ( J:164448 )

increased circulating creatine kinase level ( J:164448 )

• 10 times

craniofacial

parietal bossing ( J:164448 )

• outward bulging of the parietal bone

domed cranium ( J:164448 )

• in more than 50% of mice

growth/size/body

decreased birth body size ( J:164448 )

decreased body weight ( J:164448 )

• throughout adulthood

behavior/neurological

limb grasping ( J:164448 )

skeleton

parietal bossing ( J:164448 )

• outward bulging of the parietal bone

domed cranium ( J:164448 )

• in more than 50% of mice

cellular

abnormal neuronal migration ( J:164448 )

• in the cerebral cortex and cerebellum

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:164448
muscular dystrophy-dystroglycanopathy type B1		DOID:0050588	OMIM:613155	J:164448
muscular dystrophy-dystroglycanopathy type B5		DOID:0110635	OMIM:606612	J:164448