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Lamb2em1Jhm
Endonuclease-mediated Allele Detail
Nomenclature
Symbol: Lamb2em1Jhm
Name: laminin, beta 2; endonuclease-mediated mutation 1, Jeffrey H Miner
MGI ID: MGI:6378616
Synonyms: Lamb2S83R
Gene: Lamb2  Location: Chr9:108357046-108367729 bp, + strand  Genetic Position: Chr9, 59.4 cM, cytoband F1
Mutation
origin
Strain of Origin:  (C57BL/6J x CBA/J)F2
Mutation
description
Allele Type:    Endonuclease-mediated (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsCRISPR/Cas9 technology introduced an A to C mutation at position 247, resulting in a serine to arginine substitution at amino acid 83. This missense mutation corresponds to the S80R mutation in a patient with Pierson syndrome. (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
Carrying any Lamb2 Mutation:  44 strains or 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