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Phenotypes Associated with This Genotype
Genotype
MGI:3033884
Allelic
Composition
Loxl1tm1Tili/Loxl1tm1Tili
Genetic
Background
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

vision/eye
• 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

integument
• increased laxity and redundancy

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
exfoliation syndrome DOID:13641 OMIM:177650
J:229298


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
11/23/2021
MGI 6.17
The Jackson Laboratory