Phenotypes associated with this allele

• Allele Symbol: Cacna1f^nob2
• Allele Name: no b wave 2
• Allele ID: MGI:3605845
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cacna1f^nob2/Cacna1f^nob2	AXB6/PgnJ	MGI:3720000
ot2	Cacna1f^nob2/Y	AXB6/PgnJ	MGI:3720002

Genotype
MGI:3720000

hm1

• Allelic Composition: Cacna1f^nob2/Cacna1f^nob2
• Genetic Background: AXB6/PgnJ

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

vision/eye

abnormal retina rod bipolar cell morphology ( J:123811 )

♀ • rod bipolar cell dendrites extend beyond the outer plexiform layer into the outer nuclear layer, in some cases, dendrites reach the retinal pigment epithelium

abnormal retina ganglion cell morphology ( J:123811 )

♀ • ON-center cells exhibit reduced spontaneous activity to a photopic adapting stimulus as compared to wild-type

♀ • ON-center cells have a reduced dynamic range, although basic center-surround organization is retained

abnormal retina horizontal cell morphology ( J:123811 )

♀ • horizontal cell dendrites extend beyond the outer plexiform layer into the outer nuclear layer reaching the retinal pigment epithelium

abnormal retina outer nuclear layer morphology ( J:123811 )

♀ • bipolar and horizontal cells extend ectopic processes into the outer nuclear layer

♀ • small, diffuse punctate staining is observed in the outer nuclear layer using the presynaptic ribbon marker, Ribeye

disorganized retina outer plexiform layer ( J:123811 )

♀ • in adult mice OPL is disorganized, however, other retinal layers appear normal

♀ • horseshoe shaped structures visualized by immunolabeling using the presynaptic ribbon marker, Ribeye, are missing in mutants and are replaced by small, diffuse punctate staining

abnormal cone electrophysiology ( J:123811 )

♀ • light adapted ERGs are reduced in amplitude and have slower kinetics as compared to control

♀ • implicit time of the b-wave is delayed

♀ • cone ERG amplitude has a distinctive waveform as compared to control

abnormal rod electrophysiology ( J:123811 )

♀ • b-wave is markedly reduced through out the stimulus range in dark-adapted electroretinograms (ERG) in adult mice

♀ • implicit time of the b-wave is delayed

♀ • a-waves (between -1.2 and 0.0 log cd s/m2) are larger as compared to control, however, maximum a-wave amplitude does not differ from control

nervous system

abnormal retina rod bipolar cell morphology ( J:123811 )

♀ • rod bipolar cell dendrites extend beyond the outer plexiform layer into the outer nuclear layer, in some cases, dendrites reach the retinal pigment epithelium

abnormal retina ganglion cell morphology ( J:123811 )

♀ • ON-center cells exhibit reduced spontaneous activity to a photopic adapting stimulus as compared to wild-type

♀ • ON-center cells have a reduced dynamic range, although basic center-surround organization is retained

abnormal retina horizontal cell morphology ( J:123811 )

♀ • horizontal cell dendrites extend beyond the outer plexiform layer into the outer nuclear layer reaching the retinal pigment epithelium

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital stationary night blindness 2A		DOID:0110871	OMIM:300071	J:123811

Genotype
MGI:3720002

ot2

• Allelic Composition: Cacna1f^nob2/Y
• Genetic Background: AXB6/PgnJ

vision/eye

abnormal retina rod bipolar cell morphology ( J:123811 )

♂ • rod bipolar cell dendrites extend beyond the outer plexiform layer into the outer nuclear layer, in some cases, dendrites reach the retinal pigment epithelium

abnormal retina ganglion cell morphology ( J:123811 )

♂ • ON-center cells exhibit reduced spontaneous activity to a photopic adapting stimulus as compared to wild-type

♂ • ON-center cells have a reduced dynamic range, although basic center-surround organization is retained

abnormal retina horizontal cell morphology ( J:123811 )

♂ • horizontal cell dendrites extend beyond the outer plexiform layer into the outer nuclear layer reaching the retinal pigment epithelium

abnormal retina outer nuclear layer morphology ( J:123811 )

♂ • bipolar and horizontal cells extend ectopic processes into the outer nuclear layer

♂ • small, diffuse punctate staining is observed in the outer nuclear layer using the presynaptic ribbon marker, Ribeye

disorganized retina outer plexiform layer ( J:123811 )

♂ • in adult mice OPL is disorganized, however, other retinal layers appear normal

♂ • horseshoe shaped structures visualized by immunolabeling using the presynaptic ribbon marker, Ribeye, are missing in mutants and are replaced by small, diffuse punctate staining

abnormal cone electrophysiology ( J:123811 )

♂ • light adapted ERGs are reduced in amplitude and have slower kinetics as compared to control

♂ • implicit time of the b-wave is delayed

♂ • cone ERG amplitude has a distinctive waveform as compared to control

abnormal rod electrophysiology ( J:123811 )

♂ • b-wave is markedly reduced through out the stimulus range in dark-adapted electroretinograms (ERG) in adult mice

♂ • implicit time of the b-wave is delayed

♂ • a-waves (between -1.2 and 0.0 log cd s/m2) are larger as compared to control, however, maximum a-wave amplitude does not differ from control

nervous system

abnormal retina rod bipolar cell morphology ( J:123811 )

♂ • rod bipolar cell dendrites extend beyond the outer plexiform layer into the outer nuclear layer, in some cases, dendrites reach the retinal pigment epithelium

abnormal retina ganglion cell morphology ( J:123811 )

♂ • ON-center cells exhibit reduced spontaneous activity to a photopic adapting stimulus as compared to wild-type

♂ • ON-center cells have a reduced dynamic range, although basic center-surround organization is retained

abnormal retina horizontal cell morphology ( J:123811 )

♂ • horizontal cell dendrites extend beyond the outer plexiform layer into the outer nuclear layer reaching the retinal pigment epithelium

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital stationary night blindness 2A		DOID:0110871	OMIM:300071	J:123811