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Disease Data for CLCC1

Basic Information

Gene Taxonomy:
CLCC1
UniprotID:
Q96S66
Mouse Homolog:
Clcc1
Pharos Link:
Pharos Link
Knockout Mouse Phenotype:
brain vacuoles
muscular atrophy
nervous system phenotype
Retinal dysplasia
Neurodegeneration
Cerebellar hypoplasia
Skeletal muscle atrophy
Ataxia
abnormal embryo size
preweaning lethality
complete penetrance
embryonic growth retardation
abnormal retinal outer nuclear layer morphology
abnormal embryo turning
increased fasting circulating glucose level
abnormal retinal inner nuclear layer morphology
embryonic lethality
complete penetrance
abnormal cerebellar granule cell morphology
abnormal retinal photoreceptor layer morphology
abnormal retinal inner plexiform layer morphology
decreased skeletal muscle fiber diameter
decreased b wave amplitude
decreased cerebellar granule cell number
abnormal cerebellar granule layer morphology
decreased a wave amplitude
skeletal muscle fiber atrophy
abnormal retinal outer plexiform layer morphology
decreased retinal cone cell number
increased endoplasmic reticulum stress
Monogenic Disease Association:
Not Detected
Polygenic Disease Association:
Not Detected
10K Immunome:
Not Detected
SARS-CoV-2 Association:
Not Detected
SARS-CoV-2 Vaccine Association:
Not Detected
© University of California.
Exploring the Dark Genome