About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:4365644
Allelic
Composition
Sh3pxd2bnee/Sh3pxd2bnee
Genetic
Background
B10.Cg-H2h4 Sh3pxd2bnee/GrsrJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sh3pxd2bnee mutation (1 available); any Sh3pxd2b mutation (38 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• in all homozygotes
• at P17, homozygotes are ~15% smaller than wild-type controls (J:262132)
• by 2 months of age homozygotes have a dramatically lower body weight than controls and do not continue to grow after 2 months of age
• mice stop growing at 2 months of age

craniofacial
• in all homozygotes
• in all homozygotes

skeleton
• in all homozygotes
• DEXA analysis shows reduced bone mineral density in both males and females with females having even lower density than males
• proportionally smaller skeleton

reproductive system
• both female and male homozygotes are infertile
• although homozygous females are infertile, the ovaries function normally when transplanted into a normal host

vision/eye
• mild hyphema is occasionally present in the anterior segment of the eye at 3 months of age
• corneal neovascularization is frequently observed by 10 months of age
• only 2 of 19 eyes, containing hypermature cataracts, exhibit infiltration of leukocytes in the posterior eye segment
• occasional presence of large, inferiorly located pools of white cellular infiltrate (hypopyon) in the anterior segment of the eye at 3 months of age
• severe optic nerve head excavation extending beyond the choroid at 3 months of age
• optic nerves show severe axon degeneration and areas of gliosis by 3 months of age
• although myelinated axons appear to be sparser at P17, no signs of damaged axons are detected at this age
• all eyes exhibit advanced optic nerve head atrophy by 3 months of age
• at 3 months of age, the cross-sectional area of the optic nerve is significantly reduced, consistent with a severe glaucomatous progression
• abnormal development of the iridocorneal angle leading to severe ocular disease
• occasionally misshapen pupils at P17
• severe peripheral anterior synechiae are found in all homozygotes (J:153369)
• at P17, all eyes exhibit severe iridocorneal adhesions around the entire circumference of the eye that persist to 10 months of age (J:262132)
• significantly decreased central corneal thickness at 1 month of age
• eyes are typically bulging with white corneal opacities, which are present to varying degree in all homozygotes (J:153369)
• focal corneal opacities are first observed at 1 month of age (J:262132)
• by 3 months of age, corneal opacities are observed in all homozygotes (J:262132)
• eyes exhibit anterior segment dysgenesis and early-onset glaucoma
• severe iridocorneal adhesions presumably result in aqueous humor outflow blockage
• the anterior chamber of the eye has a larger depth than normal (J:153369)
• enlarged anterior chamber depth at 3 months of age (J:262132)
• anterior chamber enlargement is first observed at 1 month of age (J:262132)
• by 3 months of age, enlarged anterior chambers are observed in all homozygotes (J:262132)
• cataract formation is frequently observed at 3 months of age
• by 9-15 months of age, all eyes show some form of lens abnormality ranging from the presence of posteriorly located swollen cells (5 of 8 eyes) to hypermature cataracts (3 of 8 eyes)
• at 3 months of age, 7 of 19 eyes exhibit hypermature cataracts characterized by complete cortical and nuclear opacification with a wrinkled lens capsule
• at 3 months of age, 4 of 19 eyes exhibit a posterior subcapsular cataract
• all retinas show indices of glaucomatous damage at 3 months of age
• striking retinal ganglion cell loss, optic nerve head excavation, and axon loss at 3-4 months of age
• thinning of the retinal nerve fiber layer at 3 months of age
• panretinal thinning involving multiple layers is observed to various degrees with increasing age
• intraocular pressure (IOP) is significantly elevated (30.8 +/- 12.5 mmHg) at 3-4 months of age; similar IOP values are obtained at the earliest and latest time points tested (1.4 and 14.6 months of age)

nervous system
• optic nerves show severe axon degeneration and areas of gliosis at 3 months of age
• striking retinal ganglion cell loss, optic nerve head excavation, and axon loss at 3-4 months of age
• severe optic nerve head excavation extending beyond the choroid at 3 months of age
• optic nerves show severe axon degeneration and areas of gliosis by 3 months of age
• although myelinated axons appear to be sparser at P17, no signs of damaged axons are detected at this age
• all eyes exhibit advanced optic nerve head atrophy by 3 months of age
• at 3 months of age, the cross-sectional area of the optic nerve is significantly reduced, consistent with a severe glaucomatous progression

cardiovascular system
• mild hyphema is occasionally present in the anterior segment of the eye at 3 months of age
• corneal neovascularization is frequently observed by 10 months of age

adipose tissue
• adult homozygotes have severely depleted visceral and subcutaneous white adipose tissue but normal brown adipose tissue, and this is less striking in young homozygotes

hearing/vestibular/ear
• serous fluid with diffuse neutrophils is found in the middle-ear cavities of all homozygotes and the surrounding epithelium is thickened by fibrous connective tissue and embedded neutrophils
• elevated thresholds to broad-band click and 8, 16, and 32 kHz pure tone stimuli at all ages tested, from 34 to 92 days of age

immune system
• only 2 of 19 eyes, containing hypermature cataracts, exhibit infiltration of leukocytes in the posterior eye segment
• occasional presence of large, inferiorly located pools of white cellular infiltrate (hypopyon) in the anterior segment of the eye at 3 months of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
glaucoma DOID:1686 J:262132
otitis media DOID:10754 J:153369


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
11/19/2024
MGI 6.24
The Jackson Laboratory