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Gene Review

clf2  -  cleft lip 2

Mus musculus

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Disease relevance of clf2

  • Specific combinations of marker genotypes associated with cleft lip risk indicated that high risk in A/WySnJ mice is caused by epistatic interaction between clf1 and clf2 in the context of a genetic maternal effect [1].

High impact information on clf2

  • Human homologs of clf1 and clf2 are expected to be on 17q and 5q/9q [1].
  • The clf2 locus was newly mapped to Chromosome (Chr) 13 by a genome screen of BC1 segregants, and further defined to a 4-cM region between D13Mit13/54 and D13Mit231 by strain distribution patterns of cleft lip liability and markers in testcrossed RI strains [1].
  • Genotypes for a second unlinked modifier locus from A/WySn, clf2, were similarly obtained [2].
  • The clf2 modifier gene was found to have 3 alleles segregating in this study and to strongly influence the penetrance of CL in the compound mutant [2].


  1. Unravelling the complex genetics of cleft lip in the mouse model. Juriloff, D.M., Harris, M.J., Brown, C.J. Mamm. Genome (2001) [Pubmed]
  2. 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. Juriloff, D.M., Harris, M.J., McMahon, A.P., Carroll, T.J., Lidral, A.C. Birth Defects Res. Part A Clin. Mol. Teratol. (2006) [Pubmed]
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