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Phenotypes Associated with This Genotype
Genotype
MGI:6241435
Allelic
Composition
Kif21atm1.1Ece/Kif21atm1.1Ece
Genetic
Background
involves: 129S1/Sv * 129S4/SvJae
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kif21atm1.1Ece mutation (0 available); any Kif21a mutation (57 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• mice exhibit unilateral or bilateral ptosis and/or globe retraction that is 92% penetrant and primarily bilateral
• the levator palpebrae superioris muscle is reduced in size, with persistent attachment to the superior rectus
• mice exhibit unilateral or bilateral ptosis and/or globe retraction that is 92% penetrant and primarily bilateral

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

muscle
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
06/23/2022
MGI 6.20
The Jackson Laboratory