The loop tail like mutation is similar to the loop tail mutation of the Vangl2 gene in causing neurodevelopmental defects leading to short, curly tails and spina bifida. There is incomplete penetrance and prenatal and perinatal lethality. Some heterozygous with mild spina bifida survive to adulthood and have bred. Some heterozygous females have closed vaginas.
The looptail-like mutation arose spontaneously in the strain B6.129S7-Gt(ROSA)26Sor/J (stock #002192) at The Jackson Laboratory in the year 2000 and the Gt(ROSA)26Sor has been bred out of this mutant subline via backcross-intercross to C57BL/6J.
|Allele Name||loop tail 2 Jackson|
|Gene Symbol and Name||Vangl2, VANGL planar cell polarity 2|
|Strain of Origin||B6.129S7-Gt(ROSA)26Sor/J|
|Molecular Note||This spontaneous mutation is an A-to-G (T-to-C on forward strand) substitution in the 5' UTR.|