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Phenotypes Associated with This Genotype
Genotype
MGI:6505486
Allelic
Composition
Atriptm1.1Pof/Atriptm1.1Pof
Tg(Pax6-cre,GFP)2Pgr/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atriptm1.1Pof mutation (0 available); any Atrip mutation (23 available)
Tg(Pax6-cre,GFP)2Pgr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• mice show impaired eye growth resulting in mild microphthalmia
• retinas show rosette formation and ectopic deposits of laminin, a component of the basal lamina
• 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
• severe disorganization of retinal lamination in postnatal stages
• 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
• complete loss of the outer nuclear layer in the periphery of the retina
• 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
• retinas show an increase in apoptosis at E17.5 and a modest increase at P2 and P4, but no changes at E12.5
• analysis of the optomotor response shows severe visual acuity impairment

nervous system
• 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
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
05/10/2022
MGI 6.19
The Jackson Laboratory