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Phenotypes Associated with This Genotype
Genotype
MGI:6490654
Allelic
Composition
Chd7tm2a(EUCOMM)Wtsi/Chd7tm2a(EUCOMM)Wtsi
E2f1Tg(Wnt1-cre)2Sor/E2f1+
Gt(ROSA)26Sortm4(ACTB-tdTomato,-EGFP)Luo/Gt(ROSA)26Sor+
Genetic
Background
involves: 129 * C3H * C57BL/6 * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chd7tm2a(EUCOMM)Wtsi mutation (1 available); any Chd7 mutation (138 available)
E2f1Tg(Wnt1-cre)2Sor mutation (2 available); any E2f1 mutation (28 available)
Gt(ROSA)26Sortm4(ACTB-tdTomato,-EGFP)Luo mutation (10 available); any Gt(ROSA)26Sor mutation (1027 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

cardiovascular system
• about 5% of mutants show a hypoplastic pulmonary trunk at E15.5 and E16.5
• about 30% of mutants exhibit interrupted aortic arch, type b at E15.5 and E16.5
• the number of neural crest cells in the proximal outflow tract cushions is reduced at E11.5
• all mutants exhibit the double outlet right ventricle at E15.5 and E16.5
• all mutants exhibit a ventricular septal defect at E15.5 and E16.5

craniofacial
• E17.5 mutants show a smaller frontal bone
• E17.5 mutants exhibit a smaller mandible
• E17.5 mutants exhibit a smaller maxilla
• 30% of mutants show increased cell death in the pharyngeal arch region
• however, no reduction in cell proliferation is seen in the pharyngeal arch regions at E11.5

embryo
• 30% of mutants show increased cell death in the pharyngeal arch region
• however, no reduction in cell proliferation is seen in the pharyngeal arch regions at E11.5
• marker analysis at E11.5 indicates that differentiation of cranial neural crest cells into smooth muscle cells is reduced
• cell proliferation in the neural crest cell derivatives, aorta and pulmonary trunk walls, is reduced at E12.5
• 30% of mutants show increased cell death in the pharyngeal arch region
• however, no reduction in cell proliferation is seen in the dorsal neural tube, pharyngeal arch regions and outflow tract cushions at E11.5 and no increase in cell death is seen in the dorsal neural tube and outflow tract cushions at E11.5
• the number of neural crest cells in the proximal outflow tract cushions is reduced at E11.5 however, no increase in cell death or reduction in cell proliferation is seen in the outflow tract cushions, indicating that cranial neural crest cell migration to outflow tract cushions is reduced

nervous system
• marker analysis at E11.5 indicates that differentiation of cranial neural crest cells into smooth muscle cells is reduced

skeleton
• E17.5 mutants show a smaller frontal bone
• E17.5 mutants exhibit a smaller mandible
• E17.5 mutants exhibit a smaller maxilla

cellular
• the number of neural crest cells in the proximal outflow tract cushions is reduced at E11.5 however, no increase in cell death or reduction in cell proliferation is seen in the outflow tract cushions, indicating that cranial neural crest cell migration to outflow tract cushions is reduced


Contributing Projects:
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
03/18/2025
MGI 6.24
The Jackson Laboratory