Analysis Tools|
Allele Symbol Allele Name Allele ID |
Chd7Gt(XK403)Byg gene trap XK403, BayGenomics MGI:4127559 |
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| Summary |
12 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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• in 37% of mice
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• in 37% of mice
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• in 37% of mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Pharyngeal arch artery patterning defects in Chd7Whi/Chd7+, Chd7Gt(XK403)Byg/Chd7+ and Chd7Gt(XK403)Byg/Chd7+ Tbx1tm1Bld/Tbx1+ embryos
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• fewer than expected mice survive
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• some mice die by E14.5
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• in 54% of mice at E10.5
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• in 46% of mice at E10.5 (23% left and 38% right)
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• 8% of mice exhibit defects in the left sixth branchial arch artery unlike wild-type mice
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• 2% of mice exhibit defects in the right pulmonary trunk defect
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• at E14.5, 4% of mice exhibit type B interrupted aortic arches unlike wild-type mice
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• at E14.5, 2% of mice exhibit cervical arch or B-segment coarcation unlike wild-type mice
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• at E14.5, 16% of mice exhibit aberrant right subclavian artery unlike wild-type mice
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• 28% of mice exhibit abnormal great vessels unlike wild-type mice
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• the vagus nerve is reduced compared to in wild-type mice
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• in some mice
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• in 54% of mice at E10.5
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• in 46% of mice at E10.5 (23% left and 38% right)
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• 8% of mice exhibit defects in the left sixth branchial arch artery unlike wild-type mice
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• mice exhibit subtly altered neural crest cell migration to the caudal pharyngeal region compared with wild-type mice
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• in 54% of mice at E10.5
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• in 46% of mice at E10.5 (23% left and 38% right)
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• 8% of mice exhibit defects in the left sixth branchial arch artery unlike wild-type mice
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• mice exhibit subtly altered neural crest cell migration to the caudal pharyngeal region compared with wild-type mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 64% of adult mice exhibit a subtle cerebellar foliation anomaly, with variable severity between individual mice
• most pronounced foliation anomaly involves a small and posteriorly shifted lobule VIII associated with a shallow secondary fissure
• foliation defects result from defects in the timing and position of fissure formation during cerebellar development
• however, remaining 36% of mice exhibit a normal foliation structure
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• adult mice (~P60) show a 9% reduction in mean total brain volume
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• adult mice show a 9.7% reduction in mean total cortical volume
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• mice that exhibit foliation defects in the vermis also show a hemisphere-specific foliation defect; overall penetrance of this foliation phenotype in the hemispheres is also 67%
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• adult mice show a 15% reduction of simplex lobule in the anterior hemisphere of the cerebellum
• delayed formation of the superior posterior fissure results in a shallower fissure at later stages, incomplete separation of the simplex and Crus I lobules and hypoplasia of the simplex lobule
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• mildly affected mice exhibit a deeper prepyramidal fissure and a correspondingly shallower secondary fissure, resulting in a subtle posterior shift of lobule VIII
• severely affected mice show a markedly smaller and even more posteriorly shifted lobule VIII associated with a shallow secondary fissure
• in some mice, the superior posterior fissure that separates the simplex lobule from Crus I appears to be shallower, leading to partial fusion of these lobules in the anterior cerebellar hemispheres
• at E18.5, mice show a general delay in fissure formation in the vermis, with shallower preculminate and primary fissures and absence of the secondary and posterolateral fissures
• at E18.5 and P0, 60% of mice show defects in fissure formation in the vermis, in agreement with the incidence foliation defects in adult mice; formation of the preculminate, primary, secondary, and posterolateral fissures is delayed while the prepyramidal fissure is shifted to a more posterior position
• similar to findings in the vermis, delayed fissure formation is seen in the hemispheres at P2; formation of the superior posterior fissure is specifically delayed, resulting in a shallower fissure at later stages, incomplete separation of the simplex and Crus I lobules and hypoplasia of the simplex lobule
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• adult mice show a 16% reduction of lobule VIII in the posterior vermis of the cerebellum
• at P21, three of 7 mice show a small posterior shift of lobule VIII along lobule IX, while 2 of 7 mice show a more pronounced shift of lobule VIII accompanied by hypoplasia
• total incidence of foliation change affecting lobule VIII in the vermis is 67% (12 of 18)
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• adult mice show a ~12% reduction in mean total cerebellar volume
• severely affected mice show a 17% in mean cerebellar volume
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• ~65% (12 of 18) mice exhibit mild, but significant, cerebellar hypoplasia
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| CHARGE syndrome | DOID:0050834 |
OMIM:214800 |
J:262209 | |
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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 |
Effects of Cre-mediated rescue of Chd7Gt(XK403)Byg mutation on the arch artery phenotype at E10.5
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• in 83% of mice
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• in 83% of mice
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• in 83% of mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• in 50% of mice
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• in 12% of mice
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• in 50% of mice
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• in 12% of mice
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• in 50% of mice
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• in 12% of mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Effects of Cre-mediated rescue of Chd7Gt(XK403)Byg mutation on the arch artery phenotype at E10.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Effects of Cre-mediated rescue of Chd7Gt(XK403)Byg mutation on the arch artery phenotype at E10.5
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• in all mice
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• in 17% of mice
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• in all mice
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• in 17% of mice
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• in all mice
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• in 17% of mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Pharyngeal arch artery patterning defects in Chd7Whi/Chd7+, Chd7Gt(XK403)Byg/Chd7+ and Chd7Gt(XK403)Byg/Chd7+ Tbx1tm1Bld/Tbx1+ embryos
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• at E10.5, 6 of 17 mice exhibit bilateral fourth pharyngeal arch aplasia compared with 1 of 9 single heterozygotes
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• at E14.5, mice exhibit an increase in interrupted aortic arches compared with either single heterozygote
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• at E14.5, 7 of 17 mice exhibit aberrant right subclavian artery unlike wild-type mice
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• at E10.5, 6 of 17 mice exhibit bilateral fourth pharyngeal arch aplasia compared with 1 of 9 single heterozygotes
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• at E10.5, 6 of 17 mice exhibit bilateral fourth pharyngeal arch aplasia compared with 1 of 9 single heterozygotes
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• at E14.5, 4 of 17 mice exhibit ectopic thymus gland unlike single heterozygotes
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• at E14.5, 4 of 17 mice exhibit ectopic thymus gland unlike single heterozygotes
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• at E14.5, 4 of 17 mice exhibit ectopic thymus gland unlike single heterozygotes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• in 26% of mice
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• in 26% of mice
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• in 26% of mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• cerebellar vermis aplasia present at birth
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• due to cerebellar vermis aplasia
• cerebellar hemispheres are similar in size to controls
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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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