Description

Strain Information

Type Gene Trap; Mutant Stock; Mating System Heterozygote x +/+ sibling         (Female x Male) Species laboratory mouse Generation ?+N1F1 (29-APR-08)   Donating Investigator Philippe Soriano,   Fred Hutchinson Cancer Research Center

Description
Mice homozygous for this mutant allele have reduced size and weight gains after birth, occur at lower than Mendelian ratio (16%) and 46% die within 3 weeks of age. Homozygotes are fertile when they survive to adulthood. Heterozygotes are viable and fertile. No gene product is detected in homozygous embryos aged ED9.5-12.5 or in adult gonad. Homozygotes exhibit kidney defects (abnormally high blood urea nitrogen level, mutant kidney size smaller than wildtype, swollen blood filled glomeruli, reduced number of vascular smooth muscle cells in glomeruli), and abnormalities in palate bone fusion. These Arid5b-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.

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 Arid5b gene (in the 4th intron) were identified and used to generate mutant mice. Heterozygous mice were maintained on a 129S4/SvJaeSor 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.

Control Information

	Control
	Wild-type from the colony
Considerations for Choosing Controls

Phenotype

Phenotype Information

Mammalian Phenotype Terms assigned by genotype

The following phenotype information may relate to a genetic background differing from this JAX^® Mice strain.

Arid5b^{Gt(ROSA)75Sor}/Arid5b^{Gt(ROSA)75Sor}

        involves: 129S4/SvJaeSor

• lethality-postnatal
• postnatal lethality (MGI Ref ID J:117491)
  • 46% of mice die by 3 weeks
• skeleton phenotype
• abnormal skeleton morphology (MGI Ref ID J:117491)
  • abnormal neural crest derived and thoracic skeleton
• abnormal calvaria morphology (MGI Ref ID J:117491)
  • 43% of mice have reduced calvarial bones at the midline with increases in the gaps between frontal bones
• abnormal frontal bone morphology (MGI Ref ID J:117491)
  • increases in the gaps between frontal bones
• abnormal palatine shelf (MGI Ref ID J:117491)
  • 100% of mice have smaller and less extended towards the midline palatine and presphenoid bones
• abnormal presphenoid bone morphology (MGI Ref ID J:117491)
  • 100% of mice have smaller and less extended towards the midline palatine and presphenoid bones
• abnormal sternum morphology (MGI Ref ID J:117491)
  • 43% 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)
  • 43% of mice have widened vertebral arches and forked vertebrae
• abnormal vertebral arch morphology (MGI Ref ID J:117491)
  • 43% of mice have widened vertebral arches and forked vertebrae
• short maxilla (MGI Ref ID J:117491)
• short nasal bone (MGI Ref ID J:117491)
• short premaxilla (MGI Ref ID J:117491)
• 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
• growth/size phenotype
• decreased body weight (MGI Ref ID J:117491)
• postnatal growth retardation (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
• cellular phenotype
• abnormal cell migration (MGI Ref ID J:117491)
  • migration of smooth muscle cells in glomeruli is impaired
  • mouse embryonic fibroblast cells show reduced migration in a scratch test in response to PDGF stimulation
• immune system phenotype
• kidney inflammation (MGI Ref ID J:117491)
  • kidney is swollen in sections and blood filled
• craniofacial phenotype
• abnormal calvaria morphology (MGI Ref ID J:117491)
  • 43% of mice have reduced calvarial bones at the midline with increases in the gaps between frontal bones
• abnormal frontal bone morphology (MGI Ref ID J:117491)
  • increases in the gaps between frontal bones
• abnormal palate morphology (MGI Ref ID J:117491)
  • irregularities in fusion persist into adulthood
• abnormal palatine shelf (MGI Ref ID J:117491)
  • 100% of mice have smaller and less extended towards the midline palatine and presphenoid bones
• abnormal presphenoid bone morphology (MGI Ref ID J:117491)
  • 100% of mice have smaller and less extended towards the midline palatine and presphenoid bones
• abnormal snout morphology (MGI Ref ID J:117491)
  • shorter and wider than in wild-type mice
• short maxilla (MGI Ref ID J:117491)
• short nasal bone (MGI Ref ID J:117491)
• short premaxilla (MGI Ref ID J:117491)
• 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)
  • 100% of mice have smaller and less extended towards the midline palatine and presphenoid bones

Research Applications

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

Cell Biology Research
Signal Transduction

Developmental Biology Research
Craniofacial and Palate Defects
Embryonic Lethality (Homozygous) (incomplete)
Growth Defects Growth Defects (homozygous)
Internal/Organ Defects (kidney)
Perinatal Lethality (Homozygous)
Skeletal Defects

Genes & Alleles

Gene & Allele Information

Allele Symbol		Arid5bGt(ROSA)75Sor
Allele Name		gene trapped 75, Philippe M Soriano
Common Name(s)		Arid5b-;
Mutation Made By		Philippe Soriano,   Fred Hutchinson Cancer Research Center
Strain of Origin		129S4/SvJaeSor
ES Cell Line Name		AK7
ES Cell Line Strain		129S4/SvJaeSor
Gene Symbol and Name		Arid5b, AT rich interactive domain 5B (MRF1-like)
Chromosome		10
Gene Common Name(s)		5430435G07Rik; AI467247; DESRT; Desrt; FLJ21150; MRF2; Mrf2alpha; Mrf2beta; RIKEN cDNA 5430435G07 gene; developmentally and sexually retarded with transient immune abnormalities; expressed sequence AI467247;
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 4. [MGI Ref ID J:117491]

Genotyping

Genotyping Information

Genotyping Protocols

Arid5b^{Gt(ROSA)75Sor}, STD PCR, vers. 1

Helpful Links

Optimizing PCR Protocols

References

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]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Room Number           AX11

Colony Maintenance

Breeding & Husbandry	When maintaining a live colony, these mice can be bred as heterozygotes. Homozygotes occur at lower than Mendelian ratio (16%) and 46% die within 3 weeks of age.
Diet Information	LabDiet® 5K52/5K67

Purchasing information

Pricing, Supply Level & Notes, Controls, General Terms & Conditions

Pricing

Control Information

	Control
	Wild-type 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.

General Terms and Conditions

View JAX^® Mice & Services Conditions of Use.

The Jackson Laboratory's Genotype Promise

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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