Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Type Congenic; Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Species laboratory mouse Background Strain BALB/cByJ Donor Strain C57BL/6J-Aw Generation N10+F6pN1 Generation Definitions

Appearance
albino
Related Genotype: A/A Tyrp1^b/Tyrp1^b Tyr^c/Tyr^c

Description
Mice homozygous for Inpp4a^wbl exhibit small size, ataxia, and cell death in the cerebellum, hippocampus (CA1) and neocortex. Homozygotes die between two and five weeks probably from seizures and/or failure to thrive. Heterozgotes do not display an overt locomotor defect.

Development
The Inpp4a^wbl mutation arose on C57BL/6J-A^w in 1996 at The Jackson Laboratory. It was backcrossed to BALB/cByJ for ten generations in the laboratory of Dr. Wayne Frankel (Frk). Nystuen et al. describes the mutant phenotype as observed on the original background. According to a personal communication from the donating investigator, Dr. Frankel, the phenotype does not differ on this background. This strain was donated to The Jackson Laboratory in 2004.

Control Information

	Control
	Wild-type from the colony
	001026 BALB/cByJ
Considerations for Choosing Controls

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

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

Inpp4a^wbl/Inpp4a^wbl

        C57BL/6J-A^w

• mortality/aging
• complete postnatal lethality
  • mice usually die by P24; posture suggests that mice die from maximal seizures, although a general failure to thrive cannot be excluded   (MGI Ref ID J:72427)
• behavior/neurological phenotype
• ataxia
  • severe, related to cerebellar defects; detectable at P14   (MGI Ref ID J:72427)
• impaired righting response   (MGI Ref ID J:72427)
• growth/size phenotype
• decreased body size   (MGI Ref ID J:72427)
• nervous system phenotype
• Purkinje cell degeneration
  • detected as early as P6, widespread by P8, and severe by P12   (MGI Ref ID J:72427)
• hippocampal neuron degeneration
  • pronounced pyramidal cell loss detected at P21   (MGI Ref ID J:72427)
• small cerebellum
  • detected as early as P8 with further degeneration noted at P21   (MGI Ref ID J:72427)
• thin external granule cell layer   (MGI Ref ID J:72427)

View Research Applications

Research Applications

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

Inpp4a^wbl related

Neurobiology Research
Ataxia (Movement) Defects
Cerebellar Defects
Epilepsy

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol		Inpp4awbl
Allele Name		weeble
Allele Type		Spontaneous
Strain of Origin		C57BL/6J-A
Gene Symbol and Name		Inpp4a, inositol polyphosphate-4-phosphatase, type I
Chromosome		1
Gene Common Name(s)		107kDa; INPP4; R74740; TVAS1; expressed sequence R74740;
Molecular Note		The underlying mutation underlying this allele was determined to be a single nucleotide deletion (G at nucleotide position 744). The resulting frameshift creates a stop codon at amino acid position 263, truncating most of the 939 amino acid protein including the active site. [MGI Ref ID J:72427]

Genotyping

Genotyping Information

Genotyping Protocols

Inpp4a^wbl, End Point Analysis

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Nystuen A; Legare ME; Shultz LD; Frankel WN. 2001. A null mutation in inositol polyphosphate 4-phosphatase type I causes selective neuronal loss in weeble mutant mice. Neuron 32(2):203-12. [PubMed: 11683991]  [MGI Ref ID J:72427]

Additional References

Inpp4a^wbl related

Ivetac I; Gurung R; Hakim S; Horan KA; Sheffield DA; Binge LC; Majerus PW; Tiganis T; Mitchell CA. 2009. Regulation of PI(3)K/Akt signalling and cellular transformation by inositol polyphosphate 4-phosphatase-1. EMBO Rep 10(5):487-93. [PubMed: 19325558]  [MGI Ref ID J:157366]

Ivetac I; Munday AD; Kisseleva MV; Zhang XM; Luff S; Tiganis T; Whisstock JC; Rowe T; Majerus PW; Mitchell CA. 2005. The type Ialpha inositol polyphosphate 4-phosphatase generates and terminates phosphoinositide 3-kinase signals on endosomes and the plasma membrane. Mol Biol Cell 16(5):2218-33. [PubMed: 15716355]  [MGI Ref ID J:100215]

Sachs AJ; David SA; Haider NB; Nystuen AM. 2009. Patterned neuroprotection in the Inpp4a(wbl) mutant mouse cerebellum correlates with the expression of Eaat4. PLoS One 4(12):e8270. [PubMed: 20011524]  [MGI Ref ID J:155961]

Sasaki J; Kofuji S; Itoh R; Momiyama T; Takayama K; Murakami H; Chida S; Tsuya Y; Takasuga S; Eguchi S; Asanuma K; Horie Y; Miura K; Davies EM; Mitchell C; Yamazaki M; Hirai H; Takenawa T; Suzuki A; Sasaki T. 2010. The PtdIns(3,4)P(2) phosphatase INPP4A is a suppressor of excitotoxic neuronal death. Nature 465(7297):497-501. [PubMed: 20463662]  [MGI Ref ID J:161963]

Shin HW; Hayashi M; Christoforidis S; Lacas-Gervais S; Hoepfner S; Wenk MR; Modregger J; Uttenweiler-Joseph S; Wilm M; Nystuen A; Frankel WN; Solimena M; De Camilli P; Zerial M. 2005. An enzymatic cascade of Rab5 effectors regulates phosphoinositide turnover in the endocytic pathway. J Cell Biol 170(4):607-18. [PubMed: 16103228]  [MGI Ref ID J:101018]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls

General Supply Notes

• View the complete collection of spontaneous mutants in the Mouse Mutant Resource.

Control Information

	Control
	Wild-type from the colony
	001026 BALB/cByJ
Considerations for Choosing Controls
Control Pricing Information for Genetically Engineered Mutant Strains.

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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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