Phenotypes Associated with This Genotype

Genotype
MGI:6466733

• Allelic Composition: Impg2^em1Xjz/Impg2^em1Xjz
• Genetic Background: C57BL/6J-Impg2^em1Xjz

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

vision/eye

abnormal retina cone cell morphology ( J:295355 )

• mis-localized M-opsin at age 6 months

• mis-oriented and crooked at age 6 months

decreased retina cone cell number ( J:295355 )

• at age 6 months

retina cone cell degeneration ( J:295355 )

• increased apoptosis at age 6 months

abnormal retina rod cell morphology ( J:295355 )

• disorganized rod cells at age 6 months

abnormal retina rod cell inner segment morphology ( J:295355 )

• mis-localized rhodopsin found in inner segment at age 6 months

retina rod cell degeneration ( J:295355 )

• increased apoptosis at age 6 months

thin retina outer nuclear layer ( J:295355 )

• increasing decrease of peripheral ONL thickness starting at age 3 months, through 6 and 13 months

• normal thickness at age 1 month

retina degeneration ( J:295355 )

• pigment deposits and scattered patchy gray lesions of 11.5 disc diameter in retina at age 6 months

decreased a-wave amplitude ( J:295355 )

• reduction in scotopic and photopic response at age 6 months

• normal response at age 1 month

decreased b-wave amplitude ( J:295355 )

• reduction in scotopic and photopic response at age 6 months

• normal response at age 1 month

cellular

impaired autophagy ( J:295355 )

• accumulation of autophagosomes in retinal cells at age 6 months

increased endoplasmic reticulum stress ( J:295355 )

• in retinal cells at age 6 months

abnormal extracellular matrix morphology ( J:295355 )

• reduced interphotoreceptor matrix (IPM) around cone outer segment at age 6 months

nervous system

astrocytosis ( J:295355 )

• astrogliosis in retina at age 6 months

abnormal retina cone cell morphology ( J:295355 )

• mis-localized M-opsin at age 6 months

• mis-oriented and crooked at age 6 months

decreased retina cone cell number ( J:295355 )

• at age 6 months

retina cone cell degeneration ( J:295355 )

• increased apoptosis at age 6 months

abnormal retina rod cell morphology ( J:295355 )

• disorganized rod cells at age 6 months

abnormal retina rod cell inner segment morphology ( J:295355 )

• mis-localized rhodopsin found in inner segment at age 6 months

retina rod cell degeneration ( J:295355 )

• increased apoptosis at age 6 months

homeostasis/metabolism

impaired autophagy ( J:295355 )

• accumulation of autophagosomes in retinal cells at age 6 months

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinitis pigmentosa 56		DOID:0110371	OMIM:613581	J:295355