Tg(Nphs1-Lamb2*S83R)#Jhm
Transgene Detail

Summary

• 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
• Alliance: Tg(Nphs1-Lamb2*S83R)#Jhm page

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
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  rat

  Lamb2 (25473)

  Lamb2

  (MGI:99916)

• Mutation details: The 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)

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

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)