Phenotypes Associated with This Genotype

Genotype
MGI:6406385

• Allelic Composition: Chn1^tm1.1Ece/Chn1^tm1.1Ece; Tg(Hlxb9-GFP)1Tmj/0
• Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J

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

vision/eye

abnormal eye morphology ( J:243785 )

• 71.8% penetrance of unilateral or bilateral globe retraction

nervous system

abnormal axon fasciculation ( J:243785 )

• the abducens nerve has fewer hindbrain exiting bundles that are over-fasciculated in the hindbrain

abnormal innervation ( J:243785 )

• the abducens nerve has fewer hindbrain exiting bundles (30% reduction) that are over-fasciculated in the hindbrain and stalled with variable penetrance midway between the hindbrain and orbit at E11.5

• stalled abducens nerve bundles do not reach the orbit, resulting in secondary aberrant misinnervation of the lateral rectus muscle by the oculomotor nerve

• E11.5 embryos show errors in trochlear nerve projections; trochlear axons cross the midline and exit dorsally as in wild-type embryos, but the axons form multiple fascicles instead of one nerve bundle, most of which extend appropriately toward the contralateral orbit, but some turn back and misproject toward the ipsilateral orbit

• in E11.5 embryos, the first cervical spine nerve exits the brainstem appropriately, but turns dorsally toward the dermomyotome with variable bilateral penetrance

abnormal abducens nerve morphology ( J:243785 )

• embryos show an absence or thinning of the abducens nerve at the primitive extraocular muscles anlage at the orbit, as seen by a reduction in abducens nerve diameter near the orbit

cellular

abnormal axon fasciculation ( J:243785 )

• the abducens nerve has fewer hindbrain exiting bundles that are over-fasciculated in the hindbrain

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Duane retraction syndrome		DOID:12557	OMIM:126800	J:243785