About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pxdnmhdakta048
Martin Hrabe de Angelis kinked tail 048
MGI:5584201
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Pxdnmhdakta048/Pxdnmhdakta048 involves: C3HeB/FeJ * C57BL/6J MGI:5584292


Genotype
MGI:5584292
hm1
Allelic
Composition
Pxdnmhdakta048/Pxdnmhdakta048
Genetic
Background
involves: C3HeB/FeJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pxdnmhdakta048 mutation (2 available); any Pxdn mutation (68 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• congenital ocular inflammation, as determined by marker expression
• disrupted nerve fiber and horizontal cell axons
• delayed development at E17.5
• anterior segment dysgenesis at postnatal periods
• at E15.5, the anterior and posterior chamber including the iridocorneal angle is filled with lens fiber cells
• the anterior chamber angle is filled with more lens fibers or mesenchymal cells
• ciliary body hypoplasia at P21
• forward-bending iris
• disorganized lens matrix at P21
• at P21
• distortion of the parallel arrangement with more dense keratocytes distribution
• disorganized at P21
• lens vesicle remains attached to the cornea by a persistent lens stalk in some mice
• progressive reduction in anterior chamber from E17.5 to adult
• very shallow or absent anterior chamber at P21 and in adult mice
• very shallow or absent anterior chamber at P21 and in adult mice
• at E15.5, the anterior and posterior chamber including the iridocorneal angle is filled with lens fiber cells
• at E15.5 to E17.5 and at P21, mice exhibit loss of capsule structural integrity leading to extrusion of lens fiber cells into the anterior and posterior chambers
• defective lens fiber cell differentiation
• disorganized at P21
• at E15.5, secondary lens fiber cells are reduced in number compared to in wild-type mice
• at P21, the number of secondary fibers in the transition zone is reduced compared to in wild-type mice
• at E15.5, at E17.5, P21 and in adult mice
• at E17.5, P21 and in adult mice
• however, eye size is normal at E15.5
• retinal dysgenesis and retraction at P21
• early-onset glaucoma
• 9 of 28 mice exhibit loss of structural integrity of the inner limiting membrane
• retinal folds and rosette-like structures are found in 88.9% mutants at P17-P21
• only local retinal folds and rosette-like structures are found in 32.1% mutants at E15.5-E17.5
• in the inner plexiform layer
• in full retinal layers of some retinal regions
• in 21 of 28 mice, mesenchymal cells aggregate and form the retrolental tissue in the vitreous

cellular
• at E15.5 in the anterior lens epithelium
• however, proliferation of epithelial cells in the transition zone is not severely affected
• disrupted in the eyes with reduced cell adhesion

limbs/digits/tail
• however, further breeding disassociated the kinky tail from the small-eye phenotype

pigmentation

immune system
• congenital ocular inflammation, as determined by marker expression

nervous system
• disrupted nerve fiber and horizontal cell axons

integument





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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
11/12/2024
MGI 6.24
The Jackson Laboratory