Jan 9, 2008

Mouse genetic models of cleft lip with or without cleft palate

Birth Defects Research. Part A, Clinical and Molecular Teratology
Diana M Juriloff, Muriel J Harris


Nonsyndromic cleft lip and palate (CLP) is among the most common human birth defects. Transmission patterns suggest that the causes are "multifactorial" combinations of genetic and nongenetic factors, mostly distinct from those causing cleft secondary palate (CP). The major etiological factors are largely unknown, and the embryological mechanisms are not well understood. In contrast to CP or neural tube defects (NTD), CLP is uncommon in mouse mutants. Fourteen known mutants or strains express CLP, often as part of a severe syndrome, whereas nonsyndromic CLP is found in two conditional mutants and in two multifactorial models based on a hypomorphic variant with an epigenetic factor. This pattern suggests that human nonsyndromic CLP is likely caused by regulatory and hypomorphic gene variants, and may also involve epigenetics. The developmental pathogenic mechanism varies among mutants and includes deficiencies of growth of the medial, lateral or maxillary facial prominences, defects in the fusion process itself, and shifted midline position of the medial prominences. Several CLP mutants also have NTD, suggesting potential genetic overlap of the traits in humans. The mutants may reflect two interacting sets of genetic signaling p...Continue Reading

  • References130
  • Citations66


Mentioned in this Paper

Biochemical Pathway
Neural Tube
Pathogenic Organism
Bone morphogenetic protein 4
Maxillary Diseases
Transcription Factor AP-2 Alpha
Candidate Disease Gene
Cleft Palate, Isolated
BMPR1B gene

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