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| Mice homozygous for the nose eyes ear mutation are runted, with proportionally smaller skeletons, shortened noses, shortened and domed skulls, reduced areal bone mineral density, diminished visceral and subcutaneous white adipose tissue, but not brown adipose tissue, and abnormal eyes and middle ears. The eyes have an enlarged anterior chamber, cloudy cornea, and severe peripheral anterior synechia of the irideocorneal angle. The middle ear shows inflammation as serous fluid with diffuse neutrophils with thickened epithelium. Elevated ABR thresholds are found in all homozygotes and homozygotes are infertile. | |||||||||||
- Description
- Phenotype
- Genes & alleles
- Genotyping
- Health & husbandry
- References
- Purchasing information
- Terms of Use
Description
Strain Information
Former Names B10.A-H2h4/(4R)SgDvEgJ-Sh3pxd2bnee (Changed: 30-OCT-09 ) B10.Cg H2h4-nee/J (Changed: 28-OCT-09 ) B6.Cg H2h4-nee/J (Changed: 23-OCT-06 ) B6.Cg-H2h4-nee/J (Changed: 23-OCT-06 ) Type Coisogenic; Congenic; Major Histocompatibility Congenic; Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Mating System Progeny Tested (Female x Male) 28-OCT-09 Species laboratory mouse Generation F51+N3F7 (28-OCT-09) Appearance
appearance: black with runted body size and shortened face
associated genotype: a/a Sh3pxd2bnee/Sh3pxd2bnee
appearance: black, normal size
associated genotype: a/a Sh3pxd2bnee/Sh3pxd2b+ or a/a Sh3pxd2b+/Sh3pxd2b+Description
Mice homozygous for the nose eyes ear mutation are runted, with proportionally smaller skeletons, shortened noses, shortened and domed skulls, reduced areal bone mineral density, diminished visceral and subcutaneous white adipose tissue, but not brown adipose tissue, and abnormal eyes and middle ears. The eyes have an enlarged anterior chamber, cloudy cornea, and severe peripheral anterior synechia of the irideocorneal angle. The middle ear shows inflammation as serous fluid with diffuse neutrophils with thickened epithelium. Elevated ABR thresholds are found in all homozygotes and homozygotes are infertile.Development
The nose eyes ear mutation arose spontaneously in the B10.A-H2h4/(4R)SgDvEgJ strain (stock #001150) at The Jackson Laboratory in 1999 when that strain was at generation N11F51. It was maintained by backcross-intercross mating to B10.A-H2h4/(4R)SgDvEgJ then by sibling breeding and in 2009 reached generation N3F7.
Control Information
| Control | ||
|---|---|---|
| +/? from the colony | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying H2h4 allele
001150 B10.A-H2h4/(4R)SgDvEgJ 004447 NOD.Cg-H2h4/DilTacUmmJ View Strains carrying H2h4 (2 strains)
Phenotype
Phenotype Information
assigned by genotype
Sh3pxd2bnee/Sh3pxd2bnee
B10.Cg H2h4-Sh3pxd2bnee/GrsrJ
- growth/size phenotype
- decreased body size (MGI Ref ID J:153369)
- decreased body weight (MGI Ref ID J:153369)
- 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
- proportional dwarf (MGI Ref ID J:153369)
- craniofacial phenotype
- domed skull (MGI Ref ID J:153369)
- in all homozygotes
- longitudinally short skull (MGI Ref ID J:153369)
- short snout (MGI Ref ID J:153369)
- in all homozygotes
- skeleton phenotype
- abnormal skeleton development (MGI Ref ID J:153369)
- proportionally smaller skeleton
- abnormal skeleton extremities morphology (MGI Ref ID J:153369)
- the hindlegs show reduced dimensions compared with controls, but normal anatomy
- decreased bone density (MGI Ref ID J:153369)
- DEXA analysis shows reduced bone mineral density in both males and females with females having even lower density than males
- domed skull (MGI Ref ID J:153369)
- in all homozygotes
- longitudinally short skull (MGI Ref ID J:153369)
- vision/eye phenotype
- abnormal eye anterior chamber (MGI Ref ID J:153369)
- the anterior chamber of the eye has a larger depth than normal
- enlarged eye anterior chamber (MGI Ref ID J:153369)
- corneal opacity (MGI Ref ID J:153369)
- eyes are typically bulging with white corneal opacities, which are present to varying degree in all homozygotes
- synechia (MGI Ref ID J:153369)
- severe peripheral anterior synechia are found in all homozygotes
- reproductive system phenotype
- infertility (MGI Ref ID J:153369)
- both female and male homozygotes are infertile
- female infertility (MGI Ref ID J:153369)
- although homozygous females are infertile, their ovaries function fine when transplanted into a normal host
- male infertility (MGI Ref ID J:153369)
- limbs/digits/tail phenotype
- abnormal skeleton extremities morphology (MGI Ref ID J:153369)
- the hindlegs show reduced dimensions compared with controls, but normal anatomy
- hearing/vestibular/ear phenotype
- abnormal middle ear morphology (MGI Ref ID J:153369)
- serous flued 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
- decreased brainstem auditory evoked potential (MGI Ref ID J:153369)
- 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
- adipose tissue phenotype
- decreased white adipose tissue amount (MGI Ref ID J:153369)
- adult homozygotes have severely depleted visceral and subcutaneous white adipose tissue but normal brown adipose tissue, and this is less striking in young homozygotes
This mouse can be used to support research in many areas including:Sh3pxd2bnee related
Developmental Biology Research
Craniofacial and Palate Defects
Eye Defects
Skeletal Defects
Endocrine Deficiency Research
Adipose Defects
Internal/Organ Research
Adipose Defects
Sensorineural Research
Eye Defects
Vestibular and Hearing Defects
Genes & Alleles
Gene & Allele Information
| Allele Symbol | H2h4 | ||
|---|---|---|---|
| Allele Name | h4 variant | ||
| Allele Type | Not Applicable | ||
| Common Name(s) | H-2h4; | ||
| Gene Symbol and Name | H2, histocompatibility-2, MHC | ||
| Chromosome | 17 | ||
| Gene Common Name(s) | H-2; MHC-II; | ||
| General Note | This variant has been observed in the following strains: B10.A(4R) | ||
| Allele Symbol | Sh3pxd2bnee | ||
| Allele Name | nose eyes ear | ||
| Allele Type | Spontaneous | ||
| Strain of Origin | B10.A-H2h4/(4R)SgDvEgJ | ||
| Gene Symbol and Name | Sh3pxd2b, SH3 and PX domains 2B | ||
| Chromosome | 11 | ||
| Gene Common Name(s) | FAD49; FLJ20831; G431001E03Rik; HOFI; KIAA1295; RIKEN cDNA G431001E03 gene; | ||
| Molecular Note | A spontaneous mutation removes the A nucleotide at position 1303 (130delA). This mutation leads to a frame shift altering 37 amino acid before resulting in a premature stop codon and truncation of the protein product to 443 amino acids compared to the full-length 908 amino acids. The truncated protein lacks the fourth SH3 domain. [MGI Ref ID J:153369] | ||
Genotyping
Genotyping Information
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Genotyping resources and troubleshooting
References
References
Selected Reference(s)
Mao M; Thedens DR; Chang B; Harris BS; Zheng QY; Johnson KR; Donahue LR; Anderson MG. 2009. The podosomal-adaptor protein SH3PXD2B is essential for normal postnatal development. Mamm Genome 20(8):462-75. [PubMed: 19669234] [MGI Ref ID J:153369]
Additional References
H2h4 relatedBraley-Mullen H; Sharp GC; Medling B; Tang H. 1999. Spontaneous autoimmune thyroiditis in NOD.H-2h4 mice. J Autoimmun 12(3):157-65. [PubMed: 10222025] [MGI Ref ID J:54563]
Braley-Mullen H; Yu S. 2000. Early requirement for B cells for development of spontaneous autoimmune thyroiditis in NOD.H-2h4 mice J Immunol 165(12):7262-9. [PubMed: 11120860] [MGI Ref ID J:66106]
Fang Y; Sharp GC; Braley-Mullen H. 2008. Interleukin-10 promotes resolution of granulomatous experimental autoimmune thyroiditis. Am J Pathol 172(6):1591-602. [PubMed: 18467701] [MGI Ref ID J:136188]
Hutchings PR; Verma S; Phillips JM; Harach SZ; Howlett S; Cooke A. 1999. Both CD4(+) T cells and CD8(+) T cells are required for iodine accelerated thyroiditis in NOD mice. Cell Immunol 192(2):113-21. [PubMed: 10087179] [MGI Ref ID J:54320]
Levisetti MG; Lewis DM; Suri A; Unanue ER. 2008. Weak proinsulin peptide-major histocompatibility complexes are targeted in autoimmune diabetes in mice. Diabetes 57(7):1852-60. [PubMed: 18398138] [MGI Ref ID J:138230]
Miyashita N; Migita S; Moriwaki K. 1987. Effects of H-2 complex and non-H-2 background on urethane-induced chromosomal aberrations in mice. Mutat Res 176(1):59-67. [PubMed: 3099189] [MGI Ref ID J:109945]
Nagayama Y; Horie I; Saitoh O; Nakahara M; Abiru N. 2007. CD4(+)CD25(+) naturally occurring regulatory T cells and not lymphopenia play a role in the pathogenesis of iodide-induced autoimmune thyroiditis in NOD-H2(h4) mice. J Autoimmun 29(2-3):195-202. [PubMed: 17826032] [MGI Ref ID J:125178]
Podolin PL; Pressey A; DeLarato NH; Fischer PA; Peterson LB; Wicker LS. 1993. I-E+ nonobese diabetic mice develop insulitis and diabetes. J Exp Med 178(3):793-803. [PubMed: 8350054] [MGI Ref ID J:14178]
Sharma R; Traore K; Trush MA; Rose NR; Burek CL. 2008. Intracellular adhesion molecule-1 up-regulation on thyrocytes by iodine of non-obese diabetic.H2(h4) mice is reactive oxygen species-dependent. Clin Exp Immunol 152(1):13-20. [PubMed: 18241232] [MGI Ref ID J:133583]
Yu S; Sharp GC; Braley-Mullen H. 2008. TGF-beta promotes thyroid epithelial cell hyperplasia and fibrosis in IFN-gamma-deficient NOD.H-2h4 mice. J Immunol 181(3):2238-45. [PubMed: 18641364] [MGI Ref ID J:139224]
Health & husbandry
Health & Colony Maintenance Information
Animal Health Reports
Room Number A1
Colony Maintenance
Mating System Progeny Tested (Female x Male) 28-OCT-09
Purchasing information
Pricing, Supply Level & Notes, Controls, General Terms & Conditions
Pricing
| Pricing for USA, Canada and Mexico shipping destinations |
|
Weeks of Age Price (US dollars $) Gender Genotypes Provided Individual Mouse $174.70 Female or Male Heterozygous for Sh3pxd2bnee $265.53 Female or Male Homozygous for Sh3pxd2bnee
Pairs /Price (US dollars $) Pair Genotype $349.40 Heterozygous for Sh3pxd2bnee x Heterozygous for Sh3pxd2bnee
Additional Supply Details
| Pricing for International shipping destinations |
|
Weeks of Age Price (US dollars $) Gender Genotypes Provided Individual Mouse $227.20 Female or Male Heterozygous for Sh3pxd2bnee $345.20 Female or Male Homozygous for Sh3pxd2bnee
Pairs /Price (US dollars $) Pair Genotype $454.30 Heterozygous for Sh3pxd2bnee x Heterozygous for Sh3pxd2bnee
Additional Supply Details
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Supply Details
| Standard Supply | Repository-Live. A collection of over 1000 strains maintained as live colonies. Individual colonies are sized to meet current customer demand. Delivery for orders of 10 mice or less ranges on average from one to eight weeks; mice are generally shipped between four to six weeks of age with a maximum shipping age of approximately nine weeks. Colony sizes do not generally support stringent age specifications for large volumes of mice; however custom orders and larger quantities of mice are easily arranged. Estimated ship dates for all orders provided within two business days following order placement. |
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| Supply Notes |
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Control Information
| Control | ||
|---|---|---|
| +/? from the colony | ||
| Considerations for Choosing Controls | ||
| USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains. | ||
| International - Control Pricing Information for Genetically Engineered Mutant Strains. | ||
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