Analysis Tools|
Allele Symbol Allele Name Allele ID |
Nat2tm1Esim targeted mutation 1, Edith Sim MGI:2675637 |
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| Summary |
7 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• ocular defects are observed in 0.8% of homozygotes derived from intercrosses of homozygotes and in 3.3% of offspring derived by intercrossing heterozygous mutants between generations N8 and N12, but not in earlier generations
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• a gender-dependent effect is observed on offspring survival; homozygous litters exhibit a gender bias with a 1.5 fold excess of males that differs from the predicted 1:1 ratio; a reversed gender bias is seen in offspring from intercross matings in which both parents are heterozygous, with a ratio of males to females of 0.7:1
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• abnormal folate metabolism as indicated by a reduction in urinary levels of acetylated folate metabolite para-aminobenzoylglutamate
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• exhibit a trend towards a greater number of females among live-born offspring of intercrosses (heterozygous males x heterozygous females), indicating a sexual bias in allelic inheritance
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• exhibit a trend towards a greater number of females among live-born offspring of intercrosses (heterozygous males x heterozygous females), indicating a sexual bias in allelic inheritance
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Overview of ocular phenotype of Nat2tm1Esim/Nat2+ mice
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• ocular defects are observed in 5.5% of A/J offspring derived by backcrossing of wild-type mice to heterozygous mutants
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• cataract analysis shows a failure of the lens to separate from the cornea, plaques within the lens tissue, and disorganized lens tissue in the anterior subcapsular region
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• microphthalmic eyes show complete absence of lens tissue with an intact cornea but globe filled with folded retina
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• most severe cares show no evidence of an eye
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• incidence of incomplete neural tube closure amongst heterozygous offspring derived by crossing wild-type and homozygous mice is 14%; most often the position of the defect is caudal to the hindbrain, at the cervical level
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• unilateral or bilateral anophthalmia is observed in 1% of backcross and intercross offspring from N8 to N12
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• incidence of incomplete neural tube closure amongst heterozygous offspring derived by crossing wild-type and homozygous mice is 14%; most often the position of the defect is caudal to the hindbrain, at the cervical level
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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 11/12/2024 MGI 6.24 |
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