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PMID:16998816

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Citation

Juriloff, DM, Harris, MJ, McMahon, AP, Carroll, TJ and Lidral, AC (2006) Wnt9b is the mutated gene involved in multifactorial nonsyndromic cleft lip with or without cleft palate in A/WySn mice, as confirmed by a genetic complementation test. Birth Defects Res. Part A Clin. Mol. Teratol. 76:574-9

Abstract

Nonsyndromic cleft lip (CL) with or without cleft palate (CLP) is a common human birth defect with complex genetic etiology. One of the unidentified genes maps to chromosome 17q21. A mouse strain, A/WySn, has CLP with complex genetic etiology that models the human defect, and 1 of its causative genes, clf1, maps to a region homologous to human 17q21. Extensive studies of the candidate region pointed to a novel insertion of an IAP transposon 3' from the gene Wnt9b as the clf1 mutation. Independently a recessive knockout mutation of Wnt9b (Wnt9b-) was reported to cause a lethal syndrome that includes some CLP.

Links

PubMed Online version:10.1002/bdra.20302

Keywords

Animals; Cleft Lip/genetics; Cleft Palate/genetics; Disease Models, Animal; Female; Genetic Complementation Test; Genotype; Humans; Male; Mice; Mice, Inbred A; Mice, Inbred C57BL; Mice, Mutant Strains; Mutation; Phenotype; Pregnancy; Sex Ratio; Wnt Proteins/genetics

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

MOUSE:WNT9B

acts_upstream_of_or_within

GO:0048701: embryonic cranial skeleton morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:1856821
MGI:MGI:3526437

P

Seeded From UniProt

complete


See also

References

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