Analysis Tools
mortality/aging
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• no embryos are found at E8.5
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Allele Symbol Allele Name Allele ID |
Wbp11em1Gcha endonuclease-mediated mutation 1, Gavin Chapman MGI:6509996 |
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| Summary |
2 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• no embryos are found at E8.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• heterozygotes are underrepresented at E17.5, indicating that a proportion of mice die during gestation
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• fewer than the expected Mendelian ratio of mice is obtained, with only 1/3 of live mice being heterozygous post-weaning; mice are also underrepresented at P12 and E17.5, indicating that a proportion of mice die during gestation and shortly after birth
• Background Sensitivity: the percentage of heterozygous mice that die increases with subsequent backcrosses onto C57BL/6J or FVB/N; due to this increased lethality, reported phenotypes are on the second FVB/N backcross unless otherwise noted
• more male than female heterozygotes die or need to be culled on subsequent backcrosses onto C57BL/6J or FVB/N
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• Background Sensitivity: 3 of 8 mice backcrossed 3 generations to FVB/N exhibit severe cleft palate, a defect not seen in E17.5 fetuses from a second FVB/N backcross generation
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• 3 of 10 fetuses have unilateral choanal atresia at E17.5 in mice backcrossed 2 generations to FVB/N
• mice backcrossed 3 generations to FVB/N exhibit choanal atresia at E15.5
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• E8.5 embryos show a slight delay in development of about half a day
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• E17.5 fetuses weigh 30% less on average than wild-type littermates
• however, E17.5 fetuses do not show delayed development
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• low penetrance of ectopic thymus at E17.5
• low penetrance of hypoplastic ectopic thymus at E15.5 in mice backcrossed 3 generations to FVB/N
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• E8.5 embryos show a slight delay in development of about half a day
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• placentas weigh 10% less than of wild-type, however the ratio of fetal weight to placental weight is 22% lower in heterozygotes
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• low penetrance of ectopic thymus at E17.5
• low penetrance of hypoplastic ectopic thymus at E15.5 in mice backcrossed 3 generations to FVB/N
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• Background Sensitivity: 3 of 8 mice backcrossed 3 generations to FVB/N exhibit severe cleft palate, a defect not seen in E17.5 fetuses from a second FVB/N backcross generation
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• 3 of 10 fetuses have unilateral choanal atresia at E17.5 in mice backcrossed 2 generations to FVB/N
• mice backcrossed 3 generations to FVB/N exhibit choanal atresia at E15.5
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• Background Sensitivity: 3 of 8 mice backcrossed 3 generations to FVB/N exhibit severe cleft palate, a defect not seen in E17.5 fetuses from a second FVB/N backcross generation
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• 2 of 10 fetuses exhibit a small blind sac attached to the esophagus near the stomach at E17.5
• mice backcrossed 3 generations to FVB/N have a blind sac arising from the esophagus at E15.5
• however, trachea-esophageal fistula or esophageal atresia are not seen and more severe esophageal defects are not seen in mice backcrossed 3 generations to FVB/N
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• edema in the head at E17.5 which is associated with reduced brain volume
• mice backcrossed 3 generations to FVB/N exhibit edema at E15.5
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• smaller liver at E17.5
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• edema in the head at E17.5 which is associated with reduced brain volume
• mice backcrossed 3 generations to FVB/N exhibit edema at E15.5
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• E17.5 fetuses have on average a 24% smaller brain, with lower antero-posterior length, cortical width, and cortical thickness
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• the smaller kidneys at E17.5 are abnormally elongated
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• 4 of 10 heterozygotes exhibit smaller kidneys that are abnormally elongated at E17.5
• both left and right kidneys are 30% smaller
• however, kidneys are structurally normal
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• 3 of 10 fetuses have unilateral choanal atresia at E17.5 in mice backcrossed 2 generations to FVB/N
• mice backcrossed 3 generations to FVB/N exhibit choanal atresia at E15.5
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• lungs are smaller at E17.5
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• mice commonly show fusions between the 3rd and 4th sternebrae
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• mice commonly show rib defects of either small or absent 13th rib
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• cervical defects include cervical ribs in P12 mice
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• the 13th rib is sometimes absent
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• fewer defects are seen in the thoracic region, with fused vertebrae or hypoplastic transverse processes
• however, no defects in sacral or caudal regions are seen
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• fused thoracic vertebrae are seen, but to a much lower extent than for cervical vertebrae
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• P12 mice exhibit cervical defects including absent vertebral elements, asymmetry of the midline, hemi- and butterfly vertebrae, cervical ribs, hypoplastic transverse processes and dyssymphysis
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• P12 mice exhibit cervical vertebral fusions
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• majority of pups have 5 lumbar vertebrae rather than the usual 6
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• cervical and thoracic defects include hypoplastic transverse processes at P12
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• cervical defects include hemivertebrae in P12 mice
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• low penetrance of ectopic thymus at E17.5
• low penetrance of hypoplastic ectopic thymus at E15.5 in mice backcrossed 3 generations to FVB/N
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| N |
• mice show no heart defects
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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 04/30/2024 MGI 6.23 |
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