Phenotypes Associated with This Genotype

Genotype
MGI:6241434

• Allelic Composition: Kif21a^tm1.1Ece/Kif21a⁺
• 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 43% penetrant and primarily unilateral

blepharoptosis ( J:213171 )

• mice exhibit unilateral or bilateral ptosis and/or globe retraction that is 43% penetrant and primarily unilateral

nervous system

abnormal oculomotor nerve morphology ( J:213171 )

• about 50% of distal oculomotor nerves have only mild proximal thickening and distal thinning compared to wild-type, the other 50% have proximal bulbs and significant distal nerve hypoplasia and branching defects

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