Phenotypes Associated with This Genotype

Genotype
MGI:6505486

• Allelic Composition: Atrip^tm1.1Pof/Atrip^tm1.1Pof; Tg(Pax6-cre,GFP)2Pgr/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

vision/eye

microphthalmia ( J:297493 )

• mice show impaired eye growth resulting in mild microphthalmia

abnormal retina morphology ( J:297493 )

• retinas show rosette formation and ectopic deposits of laminin, a component of the basal lamina

abnormal retina progenitor cell morphology ( J:297493 )

• retinal progenitor cells accumulate DNA damage and undergo apoptosis during embryogenesis

• alteration in retinal progenitor cell proliferation is seen in late postnatal stages and neurogenesis is mildly disturbed

abnormal retina layer morphology ( J:297493 )

• severe disorganization of retinal lamination in postnatal stages

retina photoreceptor degeneration ( J:297493 )

• extensive neuronal degeneration in the retina, particularly of photoreceptor neurons, leading to complete loss of the outer nuclear layer in the periphery of the retina

retina outer nuclear layer degeneration ( J:297493 )

• complete loss of the outer nuclear layer in the periphery of the retina

abnormal eye physiology ( J:297493 )

• a subtle increase in the proportion of mitotic and S-phase cells is seen in the retinas at P4, indicating a mild dysregulation of cell proliferation

• however, no difference in the proportion of mitotic cells is seen in the retinas at E17.5 or P2

increased retina apoptosis ( J:297493 )

• retinas show an increase in apoptosis at E17.5 and a modest increase at P2 and P4, but no changes at E12.5

decreased visual acuity ( J:297493 )

• analysis of the optomotor response shows severe visual acuity impairment

nervous system

retina photoreceptor degeneration ( J:297493 )

• extensive neuronal degeneration in the retina, particularly of photoreceptor neurons, leading to complete loss of the outer nuclear layer in the periphery of the retina

cellular

increased retina apoptosis ( J:297493 )

• retinas show an increase in apoptosis at E17.5 and a modest increase at P2 and P4, but no changes at E12.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Seckel syndrome		DOID:0050569	OMIM:PS210600	J:297493