Phenotypes Associated with This Genotype

Genotype
MGI:3851599

• Allelic Composition: Cngb1^tm1Sjpi/Cngb1^tm1Sjpi
• Genetic Background: involves: 129S/SvEv * C57BL/6

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

vision/eye

abnormal retina rod cell morphology ( J:150504 )

• at P35 rod appear swollen and nonuniform in shape with expanded and constricted regions consistent with the elongated disks

abnormal retina rod cell outer segment morphology ( J:150504 )

• at P18 - P24 outer segments are shorter, often bent and less rigid compared to wild-type controls

• at P20 outer segments appear misaligned and abnormal elongation of the disks is seen

• at P60 outer segments contain elongated membranous material that most likely originates from the disks

• by 3 - 4 months of age rod outer segments are lost due to progressive degeneration

short retina rod cell outer segment ( J:150504 )

retina photoreceptor degeneration ( J:150504 )

• complete loss of the photoreceptor layer by 1 year of age

abnormal rod electrophysiology ( J:150504 )

• rods have smaller circulating currents and are less sensitive to light stimulation compared to wild-type controls

growth/size/body

growth/size/body region phenotype ( J:150504 )

N • unlike mice homozygous for Cngb1^tm1.1Biel, body weight is similar to controls

nervous system

abnormal retina rod cell morphology ( J:150504 )

• at P35 rod appear swollen and nonuniform in shape with expanded and constricted regions consistent with the elongated disks

abnormal retina rod cell outer segment morphology ( J:150504 )

• at P18 - P24 outer segments are shorter, often bent and less rigid compared to wild-type controls

• at P20 outer segments appear misaligned and abnormal elongation of the disks is seen

• at P60 outer segments contain elongated membranous material that most likely originates from the disks

• by 3 - 4 months of age rod outer segments are lost due to progressive degeneration

short retina rod cell outer segment ( J:150504 )

retina photoreceptor degeneration ( J:150504 )

• complete loss of the photoreceptor layer by 1 year of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinitis pigmentosa		DOID:10584	OMIM:PS268000	J:150504