Phenotypes associated with this allele

• Allele Symbol: Cacna1f^tm1Ntbh
• Allele Name: targeted mutation 1, N Torben Bech-Hansen
• Allele ID: MGI:3609549
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cacna1f^tm1Ntbh/Cacna1f^tm1Ntbh	B6.129-Cacna1f^tm1Ntbh	MGI:3611756
ot2	Cacna1f^tm1Ntbh/Y	B6.129-Cacna1f^tm1Ntbh	MGI:3611755

Genotype
MGI:3611756

hm1

• Allelic Composition: Cacna1f^tm1Ntbh/Cacna1f^tm1Ntbh
• Genetic Background: B6.129-Cacna1f^tm1Ntbh

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

vision/eye

abnormal retina rod bipolar cell morphology ( J:102753 )

♀ • rod bipolar cell bodies appear flattened and rougher compared to wild-type

abnormal retina horizontal cell morphology ( J:102753 )

♀ • calbindin labeling of horizontal cells is reduced in the outer plexiform layer and horizontal cell processes extend into the outer nuclear layer

abnormal retina neuronal layer morphology ( J:102753 )

♀ • axon terminals appear irregular and dendritic appendages extend beyond the outer plexiform layer into the outer nuclear layer

thin retina outer plexiform layer ( J:102753 )

♀ • the outer plexiform layer is thinner

abnormal electroretinogram waveform feature ( J:102753 )

♀ • under scotopic conditions electroretinograms for mutant mice show poor and inconsistent responses with no detectable b-wave or oscillatory potentials

♀ • under photopic conditions no reliable response is seen in mutant electroretinograms

abnormal eye electrophysiology ( J:102753 )

♀ • peak calcium signal in outer retinal layers exposed to 40mM K+ is reduced by 90% compared to wild-type

absent visual evoked potential ( J:102753 )

♀ • no visual evoked potential are detected

nervous system

abnormal sensory neuron innervation pattern ( J:102753 )

♀ • labeling for Grm6 (post-synaptic marker) and Bsn (pre-synaptic marker) is reduced in the outer plexiform layer and Bsn or co-localization of both markers is sometimes seen in the outer nuclear layer

♀ • rod synaptic terminals are abnormal lacking bipolar and horizontal cell invaginations into the synaptic terminal and almost all synaptic ribbons are absent

abnormal retina rod bipolar cell morphology ( J:102753 )

♀ • rod bipolar cell bodies appear flattened and rougher compared to wild-type

abnormal retina horizontal cell morphology ( J:102753 )

♀ • calbindin labeling of horizontal cells is reduced in the outer plexiform layer and horizontal cell processes extend into the outer nuclear layer

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital stationary night blindness 2A		DOID:0110871	OMIM:300071	J:102753

Genotype
MGI:3611755

ot2

• Allelic Composition: Cacna1f^tm1Ntbh/Y
• Genetic Background: B6.129-Cacna1f^tm1Ntbh

vision/eye

abnormal retina rod bipolar cell morphology ( J:102753 )

♂ • rod bipolar cell bodies appear flattened and rougher compared to wild-type

abnormal retina horizontal cell morphology ( J:102753 )

♂ • calbindin labeling of horizontal cells is reduced in the outer plexiform layer and horizontal cell processes extend into the outer nuclear layer

abnormal retina neuronal layer morphology ( J:102753 )

♂ • axon terminals appear irregular and dendritic appendages extend beyond the outer plexiform layer into the outer nuclear layer

thin retina outer plexiform layer ( J:102753 )

♂ • the outer plexiform layer is thinner

abnormal electroretinogram waveform feature ( J:102753 )

♂ • under scotopic conditions electroretinograms for mutant mice show poor and inconsistent responses with no detectable b-wave or oscillatory potentials

♂ • under photopic conditions no reliable response is seen in mutant electroretinograms

abnormal eye electrophysiology ( J:102753 )

♂ • peak calcium signal in outer retinal layers exposed to 40mM K+ is reduced by 90% compared to wild-type

absent visual evoked potential ( J:102753 )

♂ • no visual evoked potential are detected

nervous system

abnormal sensory neuron innervation pattern ( J:102753 )

♂ • labeling for Grm6 (post-synaptic marker) and Bsn (pre-synaptic marker) is reduced in the outer plexiform layer and Bsn or co-localization of both markers is sometimes seen in the outer nuclear layer

♂ • rod synaptic terminals are abnormal lacking bipolar and horizontal cell invaginations into the synaptic terminal and almost all synaptic ribbons are absent

abnormal retina rod bipolar cell morphology ( J:102753 )

♂ • rod bipolar cell bodies appear flattened and rougher compared to wild-type

abnormal retina horizontal cell morphology ( J:102753 )

♂ • calbindin labeling of horizontal cells is reduced in the outer plexiform layer and horizontal cell processes extend into the outer nuclear layer

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital stationary night blindness 2A		DOID:0110871	OMIM:300071	J:102753