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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)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory