Phenotypes Associated with This Genotype

Genotype
MGI:3033884

• Allelic Composition: Loxl1^tm1Tili/Loxl1^tm1Tili
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

digestive/alimentary system

abnormal intestine morphology ( J:88284 )

• intestinal diverticula

rectal prolapse ( J:88284 )

vision/eye

abnormal ciliary body morphology ( J:229298 )

• elastic fibers are diminished in the ciliary body

abnormal iris morphology ( J:229298 )

• elastic fibers are diminished in the iris

abnormal eye anterior chamber morphology ( J:229298 )

• the blood-aqueous barrier is compromised in the ocular anterior segment

abnormal lens fiber morphology ( J:229298 )

• 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 subcapsular cataract ( J:229298 )

• 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

dilated uterine cervix ( J:88284 )

♀

uterus prolapse ( J:88284 )

♀ • 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

overexpanded pulmonary alveolus ( J:88284 )

• enlarged alveoli

dilated respiratory conducting tube ( J:88284 )

• enlarged airspaces, particularly along the periphery

integument

abnormal cutaneous elastic fiber morphology ( J:88284 )

• elastic fiber defects

loose skin ( J:88284 )

• increased laxity and redundancy

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