Tg(Ckm-DNAJB6_ib*F93L)#Ccwe
Transgene Detail

Summary

• Symbol: Tg(Ckm-DNAJB6_ib*F93L)#Ccwe
• Name: transgene insertion, Conrad C Weihl
• MGI ID: MGI:5767288
• Synonyms: hDNAJB6a-F93L
• Transgene: Tg(Ckm-DNAJB6_ib*F93L)#Ccwe Location: unknown
• Alliance: Tg(Ckm-DNAJB6_ib*F93L)#Ccwe page

Transgene origin

• Strain of Origin: Not Specified

Transgene description

• Transgene Type: Transgenic (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Tg(Ckm-DNAJB6_ib*F93L)#Ccwe expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  DNAJB6 (10049)

  Dnajb6

  (MGI:1344381)

• Mutation details: The human wild-type DNAJB6 isoform b with the most common Limb-girdle muscular dystrophy type 1D mutation, F93L, and with N-terminal V5 tags is under the control of the muscle-specific muscle creatine kinase promoter. Immunoblot analysis confirmed expression exclusively in skeletal muscle and not in heart, liver, kidney, or brain. Three lines were generated, however the pound symbol (#) is used when line is not specified and/or lines are pooled. (J:226488)

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

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:226488 Bengoechea R, et al., Myofibrillar disruption and RNA-binding protein aggregation in a mouse model of limb-girdle muscular dystrophy 1D. Hum Mol Genet. 2015 Dec 1;24(23):6588-602
• All: 1 reference(s)