Phenotypes Associated with This Genotype

Genotype
MGI:6241435

• Allelic Composition: Kif21a^tm1.1Ece/Kif21a^tm1.1Ece
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae

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

vision/eye

abnormal eye morphology ( J:213171 )

• mice exhibit unilateral or bilateral ptosis and/or globe retraction that is 92% penetrant and primarily bilateral

abnormal extraocular muscle morphology ( J:213171 )

• the levator palpebrae superioris muscle is reduced in size, with persistent attachment to the superior rectus

blepharoptosis ( J:213171 )

• mice exhibit unilateral or bilateral ptosis and/or globe retraction that is 92% penetrant and primarily bilateral

nervous system

abnormal innervation pattern to muscle ( J:213171 )

• levator palpebrae superioris and superior rectus extraocular muscle innervation, and to a lesser degree, lateral rectus extraocular muscle innervation, are altered

• however, innervation of other extraocular muscles, ciliary ganglion, nasal sensory pad, and efferent fibers to the cochlea are not affected

decreased motor neuron number ( J:213171 )

• bilaterally affected mice have a 38% and 12% reduction in the number of distal oculomotor nerve and abducens motor neurons, respectively

abnormal abducens nerve morphology ( J:213171 )

• bilaterally affected mice have a 12% reduction in the number of distal abducens motor neurons

abnormal oculomotor nerve morphology ( J:213171 )

• bilaterally affected mice have a 38% reduction in the number of distal oculomotor nerve motor neurons

muscle

abnormal extraocular muscle morphology ( J:213171 )

• the levator palpebrae superioris muscle is reduced in size, with persistent attachment to the superior rectus

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital fibrosis of the extraocular muscles		DOID:0080143	OMIM:PS135700	J:213171