title: Interaction between undulated and Patch leads to an extreme form of spina bifida in double-mutant mice.
abstract: The aetiology of spina bifida involves genetic and environmental factors, which may be why major genes contributing to pathogenesis have not been identified. Here we report that undulated-Patch double-mutant mice have a phenotype reminiscent of an extreme form of spina bifida occulta in humans. This unexpected phenotype in double-mutant but not single-mutant mice shows that novel congenital anomalies such as spina bifida can result from interaction between products of independently segregating loci. This example of digenic inheritance may explain the often sporadic nature of spina bifida in humans.
authors.affiliation: Jackson Laboratory, Bar Harbor, Maine 04609, USA.
authors.forename: U
authors.initials: U
authors.lastname: Helwig
authors.forename: K
authors.initials: K
authors.lastname: Imai
authors.forename: W
authors.initials: W
authors.lastname: Schmahl
authors.forename: B E
authors.initials: BE
authors.lastname: Thomas
authors.forename: D S
authors.initials: DS
authors.lastname: Varnum
authors.forename: J H
authors.initials: JH
authors.lastname: Nadeau
authors.forename: R
authors.initials: R
authors.lastname: Balling
mesh_terms: D000015:Abnormalities, Multiple / Q000196:embryology / Q000235:genetics; D000818:Animals; D003433:Crosses, Genetic; D003560:Cysts / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics / Q000502:physiology*; D018507:Gene Expression Regulation, Developmental; D005804:Genes, Lethal; D006801:Humans; D008648:Mesoderm / Q000473:pathology; D051379:Mice; D008810:Mice, Inbred C57BL; D008817:Mice, Mutant Strains; D009024:Morphogenesis / Q000235:genetics; D051761:Paired Box Transcription Factors; D010859:Pigmentation Disorders / Q000235:genetics; D010982:Platelet-Derived Growth Factor / Q000172:deficiency / Q000235:genetics / Q000502:physiology*; D017354:Point Mutation; D017384:Sequence Deletion; D016135:Spinal Dysraphism / Q000196:embryology / Q000235:genetics*; D013131:Spine / Q000196:embryology; D014157:Transcription Factors / Q000235:genetics / Q000502:physiology*
chemical_list: D004268:DNA-Binding Proteins; D051761:Paired Box Transcription Factors; D010982:Platelet-Derived Growth Factor; D014157:Transcription Factors; C070835:PAX1 transcription factor