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Phenotypes Associated with This Genotype
Genotype
MGI:6241434
Allelic
Composition
Kif21atm1.1Ece/Kif21a+
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 43% penetrant and primarily unilateral
• mice exhibit unilateral or bilateral ptosis and/or globe retraction that is 43% penetrant and primarily unilateral

nervous system
• 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


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
06/28/2022
MGI 6.20
The Jackson Laboratory