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Tg(Nphs1-Lamb2*S83R)#Jhm
Transgene Detail
Nomenclature
Symbol: Tg(Nphs1-Lamb2*S83R)#Jhm
Name: transgene insertion, Jeffrey H Miner
MGI ID: MGI:6378618
Synonyms: Neph-LAMB2-S83R
Transgene: Tg(Nphs1-Lamb2*S83R)#Jhm  Location: unknown  
Transgene
origin
Strain of Origin:  Not Specified
Transgene
description
Transgene Type:    Transgenic (Inserted expressed sequence)
Mutation:    Insertion
 
Tg(Nphs1-Lamb2*S83R)#Jhm expresses 1 gene
 
Mutation detailsThe rat cDNA containing a serine to arginine substitution at amino acid 83 (S83R) is under the control of the mouse 4.2-kb nephrin promoter. This mutation corresponds to the S80R mutation in a patient with Pierson syndrome. This record represents pooled data for the high and normal expressing lines or data where the line number is not specified. (J:280129)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
References
Original:  J:280129 Funk SD, et al., Pathogenicity of a Human Laminin beta2 Mutation Revealed in Models of Alport Syndrome. J Am Soc Nephrol. 2018 Mar;29(3):949-960
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
09/22/2022
MGI 6.21
The Jackson Laboratory