Phenotypes Associated with This Genotype

Genotype
MGI:4441061

• Allelic Composition: Tubb3^tm1.1Ece/Tubb3^tm1.1Ece
• Genetic Background: involves: 129S/SvEv * C57BL/6J

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

mortality/aging

neonatal lethality, complete penetrance ( J:158992 )

nervous system

abnormal axon guidance ( J:158992 )

• at E11.5 to E12, guidance and branching of cranial nerves is defective compared to in wild-type mice

• mice exhibit defective guidance of commissural axons and cranial nerves compared with wild-type mice

abnormal brain commissure morphology ( J:158992 )

• mice exhibit defective guidance of commissural axons and cranial nerves compared with wild-type mice

abnormal corpus callosum morphology ( J:158992 )

• 2 of 5 mice exhibit thin corpus callosum compared with wild-type mice

• 1 of 5 mice exhibit thick corpus callosum compared with wild-type mice

absent corpus callosum ( J:158992 )

• in 2 of 5 mice

abnormal anterior commissure morphology ( J:158992 )

• mice exhibit a thinning and/or absent midline crossing of the anterior commissure throughout its anterior-posterior axis compared with wild-type mice

• the anterior-posterior axis appears tortuous and often has aberrant fiber projections at the midline unlike in wild-type mice

abnormal basal ganglion morphology ( J:158992 )

• asymmetric in some mice

abnormal cranial nerve morphology ( J:158992 )

• at E11.5 to E12, guidance and branching of cranial nerves is defective compared to in wild-type mice

abnormal oculomotor nerve morphology ( J:158992 )

• the oculomotor nerve fails to reach the correct muscle anlage and instead projected towards the position of the superior oblique unlike in wild-type mice

abnormal trigeminal nerve morphology ( J:158992 )

• the trigeminal nerve fails to grow and branch properly unlike in wild-type mice

abnormal trochlear nerve morphology ( J:158992 )

• trochlear nerve growth is often stalled unlike in wild-type mice

respiratory system

respiratory distress ( J:158992 )

• mice fail to breath normally at birth

cellular

abnormal axon guidance ( J:158992 )

• at E11.5 to E12, guidance and branching of cranial nerves is defective compared to in wild-type mice

• mice exhibit defective guidance of commissural axons and cranial nerves compared with wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital fibrosis of the extraocular muscles		DOID:0080143	OMIM:PS135700	J:158992