Phenotypes Associated with This Genotype

Genotype
MGI:3778628

• Allelic Composition: Vangl2^Lp/Vangl2⁺
• Genetic Background: involves: A

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

behavior/neurological

behavior/neurological phenotype ( J:5888 )

N • Background Sensitivity: head wobble seen in mice on an LPT/LeJ background is lost in mice descended from KF Stein's albino stock

abnormal motor capabilities/coordination/movement ( J:133042 )

• reduction if the frequency of forepaw vibrations

impaired balance ( J:133042 )

• mice will often fall on their sides when running

abnormal head movements ( J:13059 , J:133042 )

• mice display head rocking or wobbling that in some cases tends to choreic activity (J:13059)

• choreatic movement of the head (J:133042)

head shaking ( J:5061 )

• all mice with a marked degree of head shaking also show brain abnormalities

abnormal tail movements ( J:133042 )

• absence of tail rattling behavior

abnormal locomotor behavior ( J:133042 )

• decrease in the frequency of wire mesh climbing

decreased vertical activity ( J:133042 )

• decreased frequency of rearing which involves shaking movements of the forepart of the body

nervous system

nervous system phenotype ( J:5888 )

N • Background Sensitivity: no ventricle abnormalities are detected in mice descended from KF Stein's albino stock unlike mice on an LPT/LeJ background

spina bifida ( J:158452 )

• in 5% of mice

craniorachischisis ( J:162640 )

abnormal orientation of cochlear hair cell stereociliary bundles ( J:142392 , J:214064 )

• stereociliary bundles in apical regions are rotated compared to in wild-type mice (J:142392)

abnormal brain ventricle morphology ( J:5061 )

• large ventriculus impar

• however, the third and fourth ventricles appear unaffected

enlarged lateral ventricles ( J:5061 )

• seen in 7 of 9 mice examined although sometimes only unilaterally

abnormal corpus callosum morphology ( J:5061 )

• appears to be reduced in some places

abnormal dorsal striatum morphology ( J:5061 )

• slightly deformed at the medial margin and in the septal area with the nucleus lateralis septi clearly malformed

abnormal hippocampus morphology ( J:5061 )

• somewhat deformed and caudally displaced

limbs/digits/tail

short tail ( J:162640 )

curly tail ( J:13059 , J:162640 , J:201925 )

• partial penetrance of loops in the tail (J:13059)

• variable degree of contortion of the tail ranging from extreme pretzel-like twists to minor angular crooks or curves (J:13059)

• in 21 of 28 mice (J:201925)

reproductive system

vagina atresia ( J:13059 , J:162640 )

♀ • about one third of females lack a vaginal opening (J:13059)

♀ (J:162640)

female infertility ( J:162640 )

♀

skeleton

abnormal xiphoid process morphology ( J:12147 )

• frequent bifurcation of the xiphoid process, extending beyond the cartilaginous tip, is seen

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:13059 )

N • despite abnormal head movements, mice are not deaf

abnormal orientation of cochlear hair cell stereociliary bundles ( J:142392 , J:214064 )

• stereociliary bundles in apical regions are rotated compared to in wild-type mice (J:142392)

embryo

spina bifida ( J:158452 )

• in 5% of mice

craniorachischisis ( J:162640 )