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Phenotypes Associated with This Genotype
Genotype
MGI:4844283
Allelic
Composition
Msx2tm1Rilm/Msx2tm1Rilm
Genetic
Background
involves: 129S4/SvJae
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Msx2tm1Rilm mutation (1 available); any Msx2 mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• eye defects are seen as early as E10.5
• by E11.5, abnormal development of the eyes is seen with anterior expansion of the retinal pigmented epithelium
• the anterior movement of the retinal pigmented epithelium results in an iris with a bowtie-like appearance
• eyes at 3 weeks of age show iris hyperplasia
• cornea edema
• severity of cornea defects in the eyes vary among animals
• eyes at 3 weeks of age show iridocorneal adhesion
• eyes at 3 weeks after birth have thickened corneas
• eyes have only a single layer of cornea epithelium cell
• corneal thickness is increased mainly in the stromal layer
• the lens is pushed toward the cornea by overproliferated retina and mesenchyme tissues
• severity of lens defects in the eyes vary among animals
• eyes at 3 weeks of age have a smaller lens in the anterior segment
• by E11.5, abnormal development of the eyes is seen with anterior expansion of the retinal pigmented epithelium
• the lens vesicle at E10.5 is smaller and incompletely developed
• the lens vesicle is compressed by the invading periocular mesenchyme
• optic vesicle at E10.5 is larger than in wild-type mice
• enucleated eyes of mutants at 3 months of age are microphthalmic and about 50% smaller in size than wild-type eyes
• smaller palpebral fissure
• folding of the retina
• presence of ectopic pigmented tissue in the vitreous

pigmentation
• by E11.5, abnormal development of the eyes is seen with anterior expansion of the retinal pigmented epithelium
• the anterior movement of the retinal pigmented epithelium results in an iris with a bowtie-like appearance


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
03/12/2024
MGI 6.23
The Jackson Laboratory