Symbol
Name
ID

Crppa
CDP-L-ribitol pyrophosphorylase A
MGI:1923097

Phenotype annotations related to muscle

Darker colors indicate more annotations

Human Phenotypes

Macroglossia

Calf muscle hypertrophy

Calf muscle pseudohypertrophy

Scapular winging

Proximal muscle weakness in upper limbs

Lower limb muscle weakness

Proximal muscle weakness in lower limbs

Limb-girdle muscular dystrophy

Limb-girdle muscle weakness

Hypotonia

Generalized hypotonia

Muscle weakness

Hypoglycosylation of alpha-dystroglycan

Skeletal muscle atrophy

Muscular dystrophy

Disease(s) Associated with CRPPA

autosomal recessive limb-girdle muscular dystrophy type 2U

congenital muscular dystrophy-dystroglycanopathy A7

Mouse Phenotypes		skeletal muscle fiber necrosis	increased variability of skeletal muscle fiber size	centrally nucleated skeletal muscle fibers	decreased skeletal muscle weight	abnormal skeletal muscle morphology	skeletal muscle fibrosis	dystrophic muscle
Availability	Mouse Genotype
	Crppa^em2Mbp/Crppa^em2Mbp Myf5^tm3(cre)Sor/Myf5⁺ (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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