Symbol
Name
ID

Cacna1f
calcium channel, voltage-dependent, alpha 1F subunit
MGI:1859639

Phenotype annotations related to vision/eye

Darker colors indicate more annotations

Human Phenotypes

Astigmatism

Optic disc pallor

Absent foveal reflex

Hypoplasia of the fovea

Abnormality of macular pigmentation

Abnormality of retinal pigmentation

Retinal detachment

Cone/cone-rod dystrophy

Congenital stationary night blindness

Congenital stationary night blindness with abnormal fundus

Congenital stationary night blindness with normal fundus

Retinal thinning

Hypopigmentation of the fundus

Abnormal dark-adapted electroretinogram

Electronegative electroretinogram

Reduced amplitude of dark-adapted bright flash electroretinogram a-wave

Abnormal light- and dark-adapted electroretinogram

Abnormal amplitude of light-adapted flicker electroretinogram

Strabismus

Exotropia

Nystagmus

Compensatory head posture

Hypermetropia

Myopia

Color vision defect

Protanopia

Nyctalopia

Photophobia

Visual impairment

Reduced visual acuity

Severely reduced visual acuity

Central scotoma

Disease(s) Associated with CACNA1F

Aland Island eye disease

congenital stationary night blindness

congenital stationary night blindness 2A

X-linked cone-rod dystrophy 3

Mouse Phenotypes

abnormal retina apoptosis

increased retina apoptosis

decreased retina cone cell number

abnormal retina bipolar cell morphology

abnormal retina rod bipolar cell morphology

abnormal retina ganglion cell morphology

abnormal retina horizontal cell morphology

abnormal retina cone cell morphology

retina cone cell degeneration

retina rod cell degeneration

retina photoreceptor degeneration

absent optic nerve

abnormal eye morphology

abnormal ocular fundus morphology

abnormal retina morphology

abnormal retina neuronal layer morphology

abnormal retina inner plexiform layer morphology

abnormal retina outer nuclear layer morphology

thin retina outer nuclear layer

retina outer nuclear layer degeneration

abnormal retina outer plexiform layer morphology

disorganized retina outer plexiform layer

thin retina outer plexiform layer

retina gliosis

retina spots

abnormal eye physiology

abnormal electroretinogram waveform feature

abnormal a-wave shape

decreased a-wave amplitude

abnormal b-wave shape

decreased b-wave amplitude

absent b-wave

abnormal eye electrophysiology

abnormal cone electrophysiology

abnormal rod electrophysiology

absent visual evoked potential

abnormal vision

blindness

Availability

Mouse Genotype

Cacna1f^nob2/Cacna1f^nob2

Cacna1f^nob9/Cacna1f^nob9

Cacna1f^{tm1.1(KOMP)Vlcg}/Cacna1f^{tm1.1(KOMP)Vlcg}

Cacna1f^tm1.1Sdie/Cacna1f^tm1.1Sdie

Cacna1f^tm1.2Sdie/Cacna1f^tm1.2Sdie

Cacna1f^tm1Ntbh/Cacna1f^tm1Ntbh

Cacna1f^tm1.1Sdie/Cacna1f⁺

Cacna1f^nob2/Y

Cacna1f^nob9/Y

Cacna1f^{tm1.1(KOMP)Vlcg}/Y

Cacna1f^tm1.1Sdie/Y

Cacna1f^tm1.2Sdie/Y

Cacna1f^tm1Ntbh/Y

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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