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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Atriptm1.1Pof
targeted mutation 1.1, Pierre-Olivier Frappart
MGI:6501143
Summary 6 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Atriptm1.1Pof/Atriptm1.1Pof
Tg(Pax6-cre,GFP)2Pgr/0
Trp53tm1Tyj/Trp53tm1Tyj
involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6 MGI:6505488
cn2
Atriptm1.1Pof/Atriptm1.1Pof
Tg(Pax6-cre,GFP)2Pgr/0
involves: 129P2/OlaHsd * C57BL/6 MGI:6505486
cn3
Atriptm1.1Pof/Atriptm1.1Pof
Tg(Pax6-cre,GFP)1Pgr/0
involves: 129P2/OlaHsd * C57BL/6 * FVB * SJL MGI:6501213
cn4
Atriptm1.1Pof/Atriptm1.1Pof
Tg(Nes-cre)1Kln/0
involves: 129P2/OlaHsd * C57BL/6 * SJL MGI:6501209
cn5
Atriptm1.1Pof/Atriptm1.1Pof
Tg(Rho-icre)1Ck/0
involves: 129P2/OlaHsd * C57BL/6 * SJL MGI:6505487
cn6
Atriptm1.1Pof/Atriptm1.1Pof
Tg(Nes-cre)1Kln/0
Trp53tm1Brn/Trp53tm1Brn
involves: 129P2/OlaHsd * C57BL/6 * SJL MGI:6501211


Genotype
MGI:6505488
cn1
Allelic
Composition
Atriptm1.1Pof/Atriptm1.1Pof
Tg(Pax6-cre,GFP)2Pgr/0
Trp53tm1Tyj/Trp53tm1Tyj
Genetic
Background
involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atriptm1.1Pof mutation (0 available); any Atrip mutation (26 available)
Tg(Pax6-cre,GFP)2Pgr mutation (1 available)
Trp53tm1Tyj mutation (12 available); any Trp53 mutation (232 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
N
• retinas show normal morphology, lamination, and an intact outer nuclear layer, and mice exhibit a normal optomotor response
• mice show rescue of the increased apoptosis seen in the retinas of single homozygous Atrip conditional mice




Genotype
MGI:6505486
cn2
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 (26 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




Genotype
MGI:6501213
cn3
Allelic
Composition
Atriptm1.1Pof/Atriptm1.1Pof
Tg(Pax6-cre,GFP)1Pgr/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * FVB * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atriptm1.1Pof mutation (0 available); any Atrip mutation (26 available)
Tg(Pax6-cre,GFP)1Pgr mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• in E9 embryos
• ~80% reduction in eye volume at age P21




Genotype
MGI:6501209
cn4
Allelic
Composition
Atriptm1.1Pof/Atriptm1.1Pof
Tg(Nes-cre)1Kln/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atriptm1.1Pof mutation (0 available); any Atrip mutation (26 available)
Tg(Nes-cre)1Kln mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• severe developmental growth impairment at age P7
• severe developmental growth impairment at age P7
• severe developmental growth impairment at age P7

vision/eye
• in E17.5 embryos
• dysregulated DNA damage response (DDR)
• abnormal organization of transition zone at age P7
• lack of organelle-free zone (OFZ) in fiber cells at age P7
• ~50% reduction in eye volume at age P7

mortality/aging
N
• viable; mice born at expected Mendelian ratio

cellular
• dysregulated DNA damage response (DDR)
• normal cell cycle and proportion of mitotic cells of lens progenitor cells in E17.5 embryos
• increased number of mitotic defects in lens progenitor cells in E15.5 embryos
• in E17.5 embryos
• dysregulated DNA damage response (DDR)

growth/size/body
• lower body mass at birth
• at age P13




Genotype
MGI:6505487
cn5
Allelic
Composition
Atriptm1.1Pof/Atriptm1.1Pof
Tg(Rho-icre)1Ck/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atriptm1.1Pof mutation (0 available); any Atrip mutation (26 available)
Tg(Rho-icre)1Ck mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
N
• retinas show normal lamination and outer nuclear layer and mice exhibit normal visual acuity at 7 months of age




Genotype
MGI:6501211
cn6
Allelic
Composition
Atriptm1.1Pof/Atriptm1.1Pof
Tg(Nes-cre)1Kln/0
Trp53tm1Brn/Trp53tm1Brn
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atriptm1.1Pof mutation (0 available); any Atrip mutation (26 available)
Tg(Nes-cre)1Kln mutation (4 available)
Trp53tm1Brn mutation (18 available); any Trp53 mutation (232 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• ~50% reduction in eye volume at age P7

growth/size/body
• at age P13
• at age P13

cellular
• dysregulated DNA damage response (DDR) of lens progenitor cells in E15.5 embryos
• normal cell cycle and proportion of mitotic cells of lens progenitor cells in E15.5 embryos
• no lens epithelium apoptosis in E15.5 embryos
• increased number of mitotic defects in lens progenitor cells in E15.5 embryos





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last database update
04/09/2024
MGI 6.23
The Jackson Laboratory