| First Author | Guyot MC | Year | 2011 |
| Journal | Dev Dyn | Volume | 240 |
| Issue | 4 | Pages | 839-49 |
| PubMed ID | 21404367 | Mgi Jnum | J:169664 |
| Mgi Id | MGI:4941638 | Doi | 10.1002/dvdy.22577 |
| Citation | Guyot MC, et al. (2011) A novel hypomorphic Looptail allele at the planar cell polarity Vangl2 gene. Dev Dyn 240(4):839-49 |
| abstractText | Vangl2 forms part of the planar cell polarity signalling pathway and is the gene defective in the Looptail (Lp) mouse mutant. Two previously described alleles, Lp and Lp(m1Jus) , segregate in a semi-dominant fashion, with heterozygotes displaying the looped-tail appearance, while homozygotes show the neural tube defect called craniorachischisis. Here, we report a novel experimentally induced allele, Lp(m2Jus) , that carries a missense mutation, R259L, in Vangl2. This mutation was specific to the Lp phenotype and absent from both parental strains and 28 other inbred strains. Notably, this mutation segregates in a recessive manner with all heterozygotes appearing normal and 47% of homozygotes showing a looped-tail. Homozygous Lp(m2Jus) embryos showed spina bifida in 12%. Lp(m2Jus) genetically interacts with Lp with 77% of compound heterozygotes displaying craniorachischisis. Vangl2(R259L) behaved like the wild-type allele in overexpression and morpholino knockdown/rescue assays in zebrafish embryos. These data suggest that Lp(m2Jus) represents a new hypomorphic allele of Lp. Developmental Dynamics 240:839-849, 2011. (c) 2011 Wiley-Liss, Inc. |
