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Genes & Alleles

5830428H23Rik;   5830428H23RikGt(ROSA)76Sor;

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Product Information

Strain Details

Type JAX® GEMM® Strain - Gene Trap Additional information on JAX® GEMM® Strains. Type JAX® GEMM® Strain - Mutant Stock Mating System +/+ sibling x Heterozygote         (Female x Male) Species laboratory mouse Donating Investigator Philippe Soriano,   Fred Hutchinson Cancer Research Center Generation F?+N1 (08-JAN-08)

Strain Description
At age E11.5 to E18.5, homozygous embryos exhibit hemorrhages and microaneurisms. Vascular defects persist into adulthood. At 6 weeks of age, mice are anemic (low hemoglobin concentration, red blood cell count, hematocrit). These mice also exhibit polychromasia (abnormally high number of immature blood cells); kidney defects (abnormally high blood urea nitrogen level, kidney size smaller than wildtype, swollen blood filled glomeruli, reduced number of vascular smooth muscle cells in glomeruli); abnormalities in palate bone fusion and abnormal neural crest derived and thoracic skeleton development. No gene product is detected in homozygous embryos aged ED9.5-12.5 or in adult gonad. Homozygotes occur at lower than Mendelian ratio (18%) and 8% die by age 1 week. Surviving homozygotes and heterozygotes are viable and fertile. These 5830428H23Rik (BC055757)-mutant mice may be useful in studying cellular signaling in development and adult mice; specifically receptor tyrosine kinases (RTK; such as Ras, MAP kinase, PI3K and those in the platelet-derived growth factor (PDGF) family) and immediate early genes (IEG) induced shortly after RTK activation.

Strain Development
The retroviral gene-trap vector ROSAFARY (or reverse orientation splice acceptor for array) was designed with a promoter trap module (SAbgeo*pA; encoding a lacZ-neo fusion gene) and an frt-flanked poly-A trap module (PGKhygSD; PGK promoter-driven hygromycin gene with adenoviral splice donor). This construct was electroporated into 129S4/SvJaeSor-derived AK7.1 embryonic stem (ES) cells. ES cells with the ROSAFARY vector correctly targeted to the 5830428H23Rik gene (BC055757) (in the 1st intron) were identified and used to generate mutant mice. Homozygous mice were maintained on a mixed B6;129 background prior to arrival at The Jackson Laboratory. The mice were then crossed to C57BL/6J (Stock No. 000664) for one generation.

The ROSAFARY vector inserts a promoterless lacZ-neo reporter fusion gene (which functions as an artificial 3' terminal exon to intercept and terminate transcription from the targeted gene promoter) as well as a poly-A trap (which functions as an artificial 5' terminal exon to initiate transcription from the insertion site). After inserting into an intron of an endogenous gene at a permissive site and in the correct orientation, the promoter trap module and the poly-A trap module can be activated to form fusion transcripts with the 5' or 3' exons.

Mammalian Phenotype Terms assigned by genotype The following phenotype information may relate to a genetic background differing from this JAX® Mice strain. 5830428H23RikGt(ROSA)76Sor/5830428H23RikGt(ROSA)76Sor         involves: 129S4/SvJaeSor lethality-postnatal postnatal lethality (MGI Ref ID J:117491) 8% of mice die by week 1 skeleton phenotype abnormal skeleton morphology (MGI Ref ID J:117491) abnormal neural crest derived and thoracic skeleton abnormal palatine shelf (MGI Ref ID J:117491) 73% of mice have smaller and less extended towards the midline palatine and presphenoid bones abnormal presphenoid bone morphology (MGI Ref ID J:117491) 73% of mice have smaller and less extended towards the midline palatine and presphenoid bones abnormal sternum morphology (MGI Ref ID J:117491) 27% of mice have sternum defects including asymmetric or additional fusion of ribs and gaps in the sternum asymmetric rib-sternum attachment (MGI Ref ID J:117491) abnormal vertebrae morphology (MGI Ref ID J:117491) 33% of mice have widened vertebral arches and forked vertebrae abnormal vertebral arch morphology (MGI Ref ID J:117491) 33% of mice have widened vertebral arches and forked vertebrae increased rib number (MGI Ref ID J:117491) 47% of mice have a 14th pair of ribs renal/urinary system phenotype abnormal kidney morphology (MGI Ref ID J:117491) abnormal renal glomerulus morphology (MGI Ref ID J:117491) glomeruli are often degraded smooth muscle cell number is reduced in the glomeruli migration of smooth muscle cells in glomeruli is impaired pale kidney (MGI Ref ID J:117491) small kidney (MGI Ref ID J:117491) abnormal kidney physiology (MGI Ref ID J:117491) decrease in kidney function kidney inflammation (MGI Ref ID J:117491) kidney is swollen in sections and blood filled hematopoietic system phenotype abnormal red blood cell (MGI Ref ID J:117491) an increase in immature red blood cells is observed compared to wild type mice anemia (MGI Ref ID J:117491) by week 6 decreased erythrocyte cell number (MGI Ref ID J:117491) by week 6 decreased hematocrit (MGI Ref ID J:117491) by week 6 decreased hemoglobin content (MGI Ref ID J:117491) by week 6 polychromatophilia (MGI Ref ID J:117491) homeostasis/metabolism phenotype increased blood urea nitrogen level (MGI Ref ID J:117491) muscle phenotype abnormal smooth muscle morphology (MGI Ref ID J:117491) smooth muscle cell number is reduced in the glomeruli cardiovascular system phenotype abnormal vasculature (MGI Ref ID J:117491) hemorrhage (MGI Ref ID J:117491) at E11.5-E18.5 immune system phenotype kidney inflammation (MGI Ref ID J:117491) kidney is swollen in sections and blood filled cellular phenotype abnormal cell migration (MGI Ref ID J:117491) migration of smooth muscle cells in glomeruli is impaired craniofacial phenotype abnormal palate morphology (MGI Ref ID J:117491) irregularities in fusion persist into adulthood abnormal palatine shelf (MGI Ref ID J:117491) 73% of mice have smaller and less extended towards the midline palatine and presphenoid bones abnormal presphenoid bone morphology (MGI Ref ID J:117491) 73% of mice have smaller and less extended towards the midline palatine and presphenoid bones digestive/alimentary phenotype abnormal palate morphology (MGI Ref ID J:117491) irregularities in fusion persist into adulthood abnormal palatine shelf (MGI Ref ID J:117491) 73% of mice have smaller and less extended towards the midline palatine and presphenoid bones

Gene & Allele Details

Allele Symbol		5830428H23RikGt(ROSA)76Sor
Allele Name		gene trapped 76, Philippe M Soriano
Common Name(s)		BC055757-;
Strain of Origin		129S4/SvJaeSor
ES Cell Line Name		AK7
ES Cell Line Strain		129S4/SvJaeSor
Gene Symbol and Name		5830428H23Rik, RIKEN cDNA 5830428H23 gene
Chromosome		19
Gene Common Name(s)		BC055757; FLJ44894; cDNA sequence BC055757;
Molecular Note		The Rosafary gene trap vector containing a SAbetaGeo pA promoter trap module and a PGKhygSD poly-A trap module was inserted into intron 1. [MGI Ref ID J:117491]

Control Information

	Control
	Wild-type from the colony
	101043 B6129SF1/J	(approximate)
Considerations for Choosing Controls

Genotyping Protocols

5830428H23Rik^{Gt(ROSA)76Sor}

Colony Maintenance

Breeding & Husbandry	When maintaining a live colony, these mice can be bred as heterozygotes or homozygotes. Homozygotes occur at lower than Mendelian ratio (18%) and 8% die by age 1 week. Surviving homozygotes and heterozygotes are viable and fertile.
Diet Information	LabDiet® 5K52/5K67

Animal Health Reports

Room Number           AX12

Research Applications

This mouse can be used to support research in many areas including:

Cardiovascular Research
Vascular Defects

Cell Biology Research
Signal Transduction

Developmental Biology Research
Craniofacial and Palate Defects
Embryonic Lethality (Homozygous) (incomplete)
Perinatal Lethality (Homozygous)
Skeletal Defects

Hematological Research
Hematopoietic Defects

Internal/Organ Research
Kidney Defects

References

Selected Reference(s)

Schmahl J; Raymond CS; Soriano P. 2007. PDGF signaling specificity is mediated through multiple immediate early genes. Nat Genet 39(1):52-60. [PubMed: 17143286]  [MGI Ref ID J:117491]

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Price and Supply Information

Strain Name:	B6;129S4-5830428H23RikGt(ROSA)76Sor/J
Stock Number:	007202

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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 ~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 48 hours of order placement.
Supply Notes	Usually shipped between four and eight weeks of age. This strain is included in the Induced Mutant Resource Colony collection.
Licensing	See General Terms and Conditions below for Licensing and Use Restrictions
Control Information	View Control Information in Strain Details.

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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX^® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX^® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX^® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.

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