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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Cacna1f
calcium channel, voltage-dependent, alpha 1F subunit
MGI:1859639
46 phenotypes from 6 alleles in 7 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Cacna1fnob2/Y
AXB6/PgnJ 		abnormal cone electrophysiology J:123811
abnormal retina ganglion cell morphology J:123811
abnormal retina horizontal cell morphology J:123811
abnormal retina outer nuclear layer morphology J:123811
abnormal retina rod bipolar cell morphology J:123811
abnormal rod electrophysiology J:123811
disorganized retina outer plexiform layer J:123811
Cacna1fnob2/Cacna1fnob2
AXB6/PgnJ 		abnormal cone electrophysiology J:123811
abnormal retina ganglion cell morphology J:123811
abnormal retina horizontal cell morphology J:123811
abnormal retina outer nuclear layer morphology J:123811
abnormal retina rod bipolar cell morphology J:123811
abnormal rod electrophysiology J:123811
disorganized retina outer plexiform layer J:123811
Cacna1fnob9/Y
B6(PWD)-Cacna1fnob9/BocJ 		abnormal cone electrophysiology J:267160
abnormal electroretinogram waveform feature J:267160
abnormal ocular fundus morphology J:267160
abnormal retina cone cell morphology J:267160
absent b-wave J:267160
decreased a-wave amplitude J:267160
decreased b-wave amplitude J:267160
decreased retina cone cell number J:267160
retina cone cell degeneration J:267160
retina spots J:267160
thin retina outer plexiform layer J:267160
Cacna1fnob9/Cacna1fnob9
B6(PWD)-Cacna1fnob9/BocJ 		abnormal cone electrophysiology J:267160
abnormal electroretinogram waveform feature J:267160
abnormal ocular fundus morphology J:267160
abnormal retina cone cell morphology J:267160
absent b-wave J:267160
decreased a-wave amplitude J:267160
decreased b-wave amplitude J:267160
decreased retina cone cell number J:267160
retina cone cell degeneration J:267160
retina spots J:267160
thin retina outer plexiform layer J:267160
Cacna1ftm1.1(KOMP)Vlcg/Y
C57BL/6N-Cacna1ftm1.1(KOMP)Vlcg/Ucd 		abnormal eye morphology J:211773
increased circulating creatinine level J:211773
Cacna1ftm1.1(KOMP)Vlcg/Cacna1ftm1.1(KOMP)Vlcg
C57BL/6N-Cacna1ftm1.1(KOMP)Vlcg/Ucd 		abnormal eye morphology J:211773
abnormal heart morphology J:211773
absent optic nerve J:211773
enlarged heart J:211773
hyperactivity J:211773
increased circulating insulin level J:211773
Cacna1ftm1.1Sdie/Y
B6.Cg-Cacna1ftm1.1Sdie/J 		abnormal a-wave shape J:212726
abnormal b-wave shape J:212726
abnormal electroretinogram waveform feature J:212726
abnormal eye physiology J:212726
abnormal neuron physiology J:212726
abnormal retina apoptosis J:212726
abnormal synapse morphology J:212726
decreased a-wave amplitude J:212726
retina outer nuclear layer degeneration J:212726
retina photoreceptor degeneration J:212726
thin retina outer nuclear layer J:212726
Cacna1ftm1.1Sdie/Y
involves: C57BL/6 		abnormal b-wave shape J:206214
abnormal retina bipolar cell morphology J:206214
abnormal retina cone cell morphology J:206214
abnormal retina horizontal cell morphology J:206214
abnormal retina inner plexiform layer morphology J:206214
abnormal retina outer nuclear layer morphology J:206214
abnormal retina outer plexiform layer morphology J:206214
abnormal synapse morphology J:206214
abnormal vision J:206214
blindness J:206214
retina cone cell degeneration J:206214
retina gliosis J:206214
thin retina outer plexiform layer J:206214
Cacna1ftm1.1Sdie/Cacna1f+
involves: C57BL/6 		abnormal eye physiology J:206214
abnormal retina bipolar cell morphology J:206214
abnormal retina horizontal cell morphology J:206214
abnormal retina morphology J:206214
abnormal retina outer nuclear layer morphology J:206214
abnormal synapse morphology J:206214
abnormal vision J:206214
decreased b-wave amplitude J:206214
retina cone cell degeneration J:206214
retina gliosis J:206214
thin retina outer plexiform layer J:206214
Cacna1ftm1.1Sdie/Cacna1ftm1.1Sdie
B6.Cg-Cacna1ftm1.1Sdie/J 		abnormal a-wave shape J:212726
abnormal b-wave shape J:212726
abnormal electroretinogram waveform feature J:212726
abnormal eye physiology J:212726
abnormal neuron physiology J:212726
abnormal retina apoptosis J:212726
abnormal synapse morphology J:212726
decreased a-wave amplitude J:212726
retina outer nuclear layer degeneration J:212726
retina photoreceptor degeneration J:212726
thin retina outer nuclear layer J:212726
Cacna1ftm1.1Sdie/Cacna1ftm1.1Sdie
involves: C57BL/6 		abnormal b-wave shape J:206214
abnormal retina bipolar cell morphology J:206214
abnormal retina cone cell morphology J:206214
abnormal retina horizontal cell morphology J:206214
abnormal retina inner plexiform layer morphology J:206214
abnormal retina outer nuclear layer morphology J:206214
abnormal retina outer plexiform layer morphology J:206214
abnormal synapse morphology J:206214
abnormal vision J:206214
blindness J:206214
retina cone cell degeneration J:206214
retina gliosis J:206214
thin retina outer plexiform layer J:206214
Cacna1ftm1.2Sdie/Y
B6.Cg-Cacna1ftm1.2Sdie/J 		abnormal electroretinogram waveform feature J:212726
abnormal eye physiology J:212726
abnormal neuron physiology J:212726
abnormal synapse morphology J:212726
decreased a-wave amplitude J:212726
decreased b-wave amplitude J:212726
increased retina apoptosis J:212726
retina photoreceptor degeneration J:212726
retina rod cell degeneration J:212726
thin retina outer nuclear layer J:212726
Cacna1ftm1.2Sdie/Cacna1ftm1.2Sdie
B6.Cg-Cacna1ftm1.2Sdie/J 		abnormal electroretinogram waveform feature J:212726
abnormal eye physiology J:212726
abnormal neuron physiology J:212726
abnormal synapse morphology J:212726
decreased a-wave amplitude J:212726
decreased b-wave amplitude J:212726
increased retina apoptosis J:212726
retina photoreceptor degeneration J:212726
retina rod cell degeneration J:212726
thin retina outer nuclear layer J:212726
Cacna1ftm1Ntbh/Y
B6.129-Cacna1ftm1Ntbh 		abnormal electroretinogram waveform feature J:102753
abnormal eye electrophysiology J:102753
abnormal retina horizontal cell morphology J:102753
abnormal retina neuronal layer morphology J:102753
abnormal retina rod bipolar cell morphology J:102753
abnormal sensory neuron innervation pattern J:102753
absent visual evoked potential J:102753
thin retina outer plexiform layer J:102753
Cacna1ftm1Ntbh/Cacna1ftm1Ntbh
B6.129-Cacna1ftm1Ntbh 		abnormal electroretinogram waveform feature J:102753
abnormal eye electrophysiology J:102753
abnormal retina horizontal cell morphology J:102753
abnormal retina neuronal layer morphology J:102753
abnormal retina rod bipolar cell morphology J:102753
abnormal sensory neuron innervation pattern J:102753
absent visual evoked potential J:102753
thin retina outer plexiform layer J:102753
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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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04/16/2024
MGI 6.23 		The Jackson Laboratory