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Phenotypes Associated with This Genotype
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Loxl1tm1Tili mutation (0 available); any Loxl1 mutation (32 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
digestive/alimentary system
• intestinal diverticula

• elastic fibers are diminished in the ciliary body
• elastic fibers are diminished in the iris
• the blood-aqueous barrier is compromised in the ocular anterior segment
• numerous vacuoles located in the subcapsular lens fibers; vacuoles are intracellular
• increase in separation between the lens fibers
• however, the lens capsule is normal
• anterior lens has a spotted appearance, with affected region in an area in close juxtaposition to the posterior iris epithelial lining and relative sparing of the center region
• however, no posterior lens opacification is seen up to 18 months of age, no deposition of macromolecular material on ocular structures is not seen, intraocular pressure is normal, and ganglion cell loss or optic nerve pathology is seen, and mice dont develop glaucoma

reproductive system
• developing 1 to 2 days post partum
• associated with elastin deposition in the uterine tract
• prolapsed tissues retracted over time, but prominent pelvic descent remained

respiratory system
• enlarged alveoli
• enlarged airspaces, particularly along the periphery

• increased laxity and redundancy

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
exfoliation syndrome DOID:13641 OMIM:177650

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
MGI 6.17
The Jackson Laboratory