Lamb2^em1Jhm
Endonuclease-mediated Allele Detail

Summary

• Symbol: Lamb2^em1Jhm
• Name: laminin, beta 2; endonuclease-mediated mutation 1, Jeffrey H Miner
• MGI ID: MGI:6378616
• Synonyms: Lamb2^S83R
• Gene: Lamb2 Location: Chr9:108357080-108367729 bp, + strand Genetic Position: Chr9, 59.4 cM, cytoband F1
• Alliance: Lamb2^em1Jhm page

Mutation origin

• Strain of Origin: (C57BL/6J x CBA/J)F2

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Single point mutation
• Mutation details: CRISPR/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)

Disease models

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: 76 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)