Phenotypes associated with this allele

• Allele Symbol: Cacna2d4^lob
• Allele Name: loss of b-wave
• Allele ID: MGI:3665263
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cacna2d4^lob/Cacna2d4^lob	C57BL/10-Cacna2d4^lob	MGI:3690879
hm2	Cacna2d4^lob/Cacna2d4^lob	involves: A/J * C57BL/10	MGI:3690880

Genotype
MGI:3690879

hm1

• Allelic Composition: Cacna2d4^lob/Cacna2d4^lob
• Genetic Background: C57BL/10-Cacna2d4^lob

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

vision/eye

abnormal retina layer morphology ( J:65548 )

• all retinal layers are reduced in thickness compared to controls; however, the severity of reduction varies between layers

abnormal retina inner plexiform layer morphology ( J:65548 )

• at 3 months of age ribbons lack dyades

abnormal retina outer nuclear layer morphology ( J:65548 )

• about a 1/3 reduction in the number of pericarya

abnormal retina outer plexiform layer morphology ( J:65548 )

• most noticeably reduced in thickness

• the subdivision of the OPL is absent and some photoreceptor pericarya protrude into this layer

• location of the cone pedicles varies and these may be displayed into the external periphery

• ribbon-like arrangement of photoreceptor synapses is disturbed with cone pedicle ribbons displaying a tendency to form small clusters of 2 - 3 ribbons and an absence of rod spherule derived ribbons

thin retina outer plexiform layer ( J:65548 )

• most noticeably reduced in thickness

abnormal eye electrophysiology ( J:65548 )

• the oscillatory potentials are severely reduced

abnormal cone electrophysiology ( J:65548 )

• undetectable in the presence of a rod desensitizing background of 30 cdm^-2

abnormal rod electrophysiology ( J:65548 )

• b wave and to a lesser extent a wave amplitudes are reduced

• at a stimulus strength of 1 cdsm^-2 in the dark adapted electroretinogram the b/a wave ratio is 0.55 compared to 2.1 in wild-type C57BL/6 mice

Genotype
MGI:3690880

hm2

• Allelic Composition: Cacna2d4^lob/Cacna2d4^lob
• Genetic Background: involves: A/J * C57BL/10

vision/eye

abnormal retina outer nuclear layer morphology ( J:112267 )

• about a 15% reduction in cell number, but no obvious change in the pattern or density of cones in the retina

thin retina outer plexiform layer ( J:112267 )

• significantly thinner

abnormal rod electrophysiology ( J:112267 )

• b wave and to a lesser extent a wave amplitudes are reduced

• a/b-wave ratio is about 25% that of wild-type mice