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| These Nephrin KO/GFP knock-in mice may be useful in studying nephrotic syndrome or any of the diseases where plasma ultrafiltration is affected. | |||||||||||||||||||
- Description
- Phenotype
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Description
Strain Information
Type Mutant Strain; Targeted Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Donating Investigator Raghu Kalluri, Beth Israel Deaconess Medical Center Description
Mice that are heterozygous for the Nephrin KO/GFP knock-in mutation are viable and fertile. Homozygous mice die within a few days after birth with massive glomerular vascular leak and an absence of glomerular epithelial slit diaphragms. No gene product is detected by Western blot of kidney tissue of homozygotes. Green fluorescent protein (GFP) is detected in glomeruli of homozygotes and heterozygotes. Newborn homozygotes show extensive proteinuria, while heterozygotes show none. These Nephrin KO/GFP knock-in mice may be useful in studying nephrotic syndrome or any of the diseases where plasma ultrafiltration is affected.Development
A targeting vector was generated in which base pairs -1 to 33 surrounding the ATG start codon of exon 1 of the endogenous gene were replaced with an in-frame green fluorescent protein-polyadenylation stop followed by a phosphoglycerol kinase promoter-neomycin resistance-polyadenylation stop. The construct was electroporated into 129/Sv derived embryonic stem (ES) cells. Correctly targeted ES cells were injected into recipient blastocysts and the resulting chimeric males were bred to 129/Sv females. Heterozygotes were backcrossed to 129/Sv for more than ten generations before arrival at The Jackson Laboratory. Upon arrival, mutant mice were bred with 129S1/SvImJ inbred mice (Stock No. 002448) for at least one generation to establish the colony.
Control Information
| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| 002448 129S1/SvImJ | (approximate) | |
| Considerations for Choosing Controls | ||
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Fluorescent Protein Strains
View Fluorescent Protein Strains (225 strains)
Additional Web Information
Fluorescent Proteins/lacZ Systems
Phenotype
Phenotype Information
Nephrosis 1, Congenital, Finnish Type; NPHS1 - Models with phenotypic similarity to human disease where etiologies involve orthologs.1
1 Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
assigned by genotype
Nphs1tm1Rkl/Nphs1tm1Rkl
involves: 129S2/SvPasCrl
- lethality-postnatal
- postnatal lethality (MGI Ref ID J:78616)
- homozygous mutant mice die at 2 days of age
- renal/urinary system phenotype
- absent podocyte slit diaphragm (MGI Ref ID J:78616)
- electronglomerular epithelial slit diaphragms (GESD) are absent
- dilated renal glomerular capsule (MGI Ref ID J:78616)
- histological examination reveals enlargement of Bowman's space
- dilated renal tubules (MGI Ref ID J:78616)
- proteinuria (MGI Ref ID J:78616)
- massive glomerular vascular leakage (GVL) of plasma protien was demonstrated by SDS-PAGE of urine from 1 day old mutant mice
- homeostasis/metabolism phenotype
- proteinuria (MGI Ref ID J:78616)
- massive glomerular vascular leakage (GVL) of plasma protien was demonstrated by SDS-PAGE of urine from 1 day old mutant mice
This mouse can be used to support research in many areas including:
Developmental Biology Research
Internal/Organ Defects
kidney
kidney: vasculature
urogenital
Perinatal Lethality
Homozygous
Internal/Organ Research
Kidney Defects
Research Tools
Fluorescent Proteins
Genetics Research
Tissue/Cell Markers: kidney specific marker
Genes & Alleles
Gene & Allele Information
| Allele Symbol | Nphs1tm1Rkl | ||
|---|---|---|---|
| Allele Name | targeted mutation 1, Raghu Kalluri | ||
| Allele Type | Targeted (Reporter) | ||
| Mutation Made By | Raghu Kalluri, Beth Israel Deaconess Medical Center | ||
| Strain of Origin | 129/Sv | ||
| Gene Symbol and Name | Nphs1, nephrosis 1 homolog, nephrin (human) | ||
| Chromosome | 7 | ||
| Gene Common Name(s) | CNF; NPHN; nephrin; | ||
| General Note | Immunohistochemical and western blot analyses of kidneys of homozygous newborn mice demonstrated absence of nephrin protein. No alteration was observed in expression of any glomerular basement membrane (GBM) or glomerular epithelial slit diaphragm (GESD)protein other than nephrin; proteins analyzed included integrin alpha3, podocin, alpha actinin 4, CD2AP, synaptopodin, nephronectin and type IV collagens alpha3, alpha4 and alpha5. (J:78616) | ||
| Molecular Note | 34 bp surrounding the translational start codon in exon 1 (-1 through +33) were deleted by the insertion of a GFP-neo cassette inserted via homologous recombination. Expression of GFP was observed in both homozygous and heterozygous mutant mice. [MGI Ref ID J:78616] | ||
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)
Hamano Y; Grunkemeyer JA; Sudhakar A; Zeisberg M; Cosgrove D; Morello R; Lee B; Sugimoto H; Kalluri R. 2002. Determinants of vascular permeability in the kidney glomerulus. J Biol Chem 277(34):31154-62. [PubMed: 12039968] [MGI Ref ID J:78616]
Health & husbandry
Health & Colony Maintenance Information
Colony Maintenance
Breeding & Husbandry When maintaining a live colony, heterozygous mice may be bred together or to wildtype siblings. Homozygous mice a few days after birth.
Purchasing information
Pricing, Supply Level & Notes, Controls, General Terms & Conditions
This strain is currently Under Development for Production.
To register your interest in this strain go to the Strain Interest Form.
Estimated Available for Sale Date:
Please note: Estimated available for sale dates are provided to keep customers better informed on strains under development. Please note that our Colony Managers routinely monitor the target date and edit it based on breeding performance and other factors. The length of time it takes to make a new strain available for sale depends on genotype, age, number of animals sent by the Donating Investigator, breeding performance, additional strain development (backcrossing, making homozygous), and anticipated demand for the strain/interest registered.
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Supply Details
| Standard Supply | Under Development for Distribution Colony |
|---|---|
| Supply Notes |
|
Control Information
| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| 002448 129S1/SvImJ | (approximate) | |
| 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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