Phenotypes associated with this allele

• Allele Symbol: Syne2^cpfl8
• Allele Name: cone photoreceptor function loss 8
• Allele ID: MGI:3689343
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Syne2^cpfl8/Syne2^cpfl8	B6.Cg-Syne2^cpfl8/Boc	MGI:5776511

Genotype
MGI:5776511

hm1

• Allelic Composition: Syne2^cpfl8/Syne2^cpfl8
• Genetic Background: B6.Cg-Syne2^cpfl8/Boc

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

vision/eye

vision/eye phenotype ( J:229433 )

N • the number of photoreceptors does not decline with age

increased retina apoptosis ( J:229433 )

• increased apoptosis as early as P0 and peaking at P5

abnormal Muller cell morphology ( J:229433 )

• misplaced in the outer nuclear layer and outer plexiform layer

decreased retina cone cell number ( J:229433 )

• due to improper cone development and increased cell death

abnormal retina bipolar cell morphology ( J:229433 )

• scattered throughout the inner nuclear layer and occasionally on the scleral side of the outer plexiform layer

abnormal retina horizontal cell morphology ( J:229433 )

• mislocalized on the scleral side of the outer plexiform layer

• terminals are thin and disorganized at P8

• cell bodies are positioned toward the scleral side of the outer plexiform layer at P14

short photoreceptor inner segment ( J:229433 )

• at 1 month

short photoreceptor outer segment ( J:229433 )

• at 1 month

thin retina inner nuclear layer ( J:229433 )

• at 1 month

thin retina outer nuclear layer ( J:229433 )

• at 1 month

abnormal retina outer plexiform layer morphology ( J:229433 )

• thinned with ectopic cells resembling photoreceptor nuclei

thin retina outer plexiform layer ( J:229433 )

• at 1 month

abnormal cone electrophysiology ( J:229433 )

• low cone response

• diminished cone b-wave ERG response at 26 days

abnormal rod electrophysiology ( J:229433 )

• diminished rod ERG response at 26 days

nervous system

abnormal Muller cell morphology ( J:229433 )

• misplaced in the outer nuclear layer and outer plexiform layer

decreased retina cone cell number ( J:229433 )

• due to improper cone development and increased cell death

abnormal retina bipolar cell morphology ( J:229433 )

• scattered throughout the inner nuclear layer and occasionally on the scleral side of the outer plexiform layer

abnormal retina horizontal cell morphology ( J:229433 )

• mislocalized on the scleral side of the outer plexiform layer

• terminals are thin and disorganized at P8

• cell bodies are positioned toward the scleral side of the outer plexiform layer at P14

short photoreceptor inner segment ( J:229433 )

• at 1 month

short photoreceptor outer segment ( J:229433 )

• at 1 month

abnormal synapse morphology ( J:229433 )

• ectopic synapses in the retina

• however, synapses are structurally normal

cellular

abnormal cell nucleus morphology ( J:229433 )

• blebbed nuclei in truncal skin fibroblasts

increased retina apoptosis ( J:229433 )

• increased apoptosis as early as P0 and peaking at P5