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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Asrgl1em1Xjz
endonuclease-mediated mutation 1, Xianjun Zhu
MGI:6867218
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Asrgl1em1Xjz/Asrgl1em1Xjz C57BL/6J-Asrgl1em1Xjz MGI:7407135


Genotype
MGI:7407135
hm1
Allelic
Composition
Asrgl1em1Xjz/Asrgl1em1Xjz
Genetic
Background
C57BL/6J-Asrgl1em1Xjz
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Asrgl1em1Xjz mutation (0 available); any Asrgl1 mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• TUNEL assays showed increased retina apoptosis at 15 months of age; TUNEL+ cells are mostly found in the outer nuclear layer (ONL), indicating continuous photoreceptor cell death
• inner nuclear layer (INL) thickness is normal at 9 months but slightly decreased at 15 months of age
• outer nuclear layer (ONL) thickness is progressively reduced starting at 9 months of age and ONL is drastically thinner by 15 months age
• thickness of the photoreceptor layer (inner segment + outer segment) is progressively decreased starting at 9 months of age and drastically reduced by 15 months age
• number of cone cells is decreased at 12 months and drastically reduced by 15 months of age
• photoreceptor inner segment is significantly shortened at 15 months of age, as shown by decreased Na-K ATPase staining
• photoreceptor outer segment is significantly shortened at 12 and 15 months of age, as shown by decreased rhodopsin staining
• mice show late-onset degeneration of photoreceptor cells
• progressive degeneration of cone cells
• progressive degeneration of rod cells
• mean a-wave amplitudes are reduced by ~15% in scotopic response tests
• mean b-wave amplitudes are reduced by ~30% in scotopic response tests
• all mice show attenuated electroretinogram (ERG) responses around 8 months of age
• however, ERG responses are normal at 6 months of age
• all mice exhibit reduced photopic responses at 8 months of age with a somewhat flat wave under light-adapted conditions
• all mice exhibit reduced scotopic responses at 8 months of age

nervous system
• number of cone cells is decreased at 12 months and drastically reduced by 15 months of age
• photoreceptor inner segment is significantly shortened at 15 months of age, as shown by decreased Na-K ATPase staining
• photoreceptor outer segment is significantly shortened at 12 and 15 months of age, as shown by decreased rhodopsin staining
• mice show late-onset degeneration of photoreceptor cells
• progressive degeneration of cone cells
• progressive degeneration of rod cells

cellular
• TUNEL assays showed increased retina apoptosis at 15 months of age; TUNEL+ cells are mostly found in the outer nuclear layer (ONL), indicating continuous photoreceptor cell death





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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
05/07/2024
MGI 6.23
The Jackson Laboratory