GENOTYPE

cachd1^nu202/+

ID: ZDB-GENO-241204-2
Name: cachd1^nu202/+
Previous Name
Background: Unspecified
Affected Genomic Region: cachd1
Current Source: No data available

Notes

No data available

Genotype Composition

Genomic Feature	Construct	Lab of Origin	Zygosity	Parental Zygosity
nu202		Erica Davis Lab	heterozygous	♀+/- ♂+/-

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Fish utilizing cachd1^nu202/+

Citations

Include unpublished citations

Scala, M., Khan, K., Beneteau, C., Fox, R.G., von Hardenberg, S., Khan, A., Joubert, M., Fievet, L., Musquer, M., Le Vaillant, C., Holsclaw, J.K., Lim, D., Berking, A.C., Accogli, A., Giacomini, T., Nobili, L., Striano, P., Zara, F., Torella, A., Nigro, V., Cogné, B., Salick, M.R., Kaykas, A., Eggan, K., Capra, V., Bézieau, S., Davis, E.E., Wells, M.F. (2023) Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities. Genetics in medicine : official journal of the American College of Medical Genetics. 26(4):101057

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