Clcn1^em1Btlr
Endonuclease-mediated Allele Detail

Summary

• Symbol: Clcn1^em1Btlr
• Name: chloride channel, voltage-sensitive 1; endonuclease-mediated mutation 1, Bruce Beutler
• MGI ID: MGI:6725085
• Gene: Clcn1 Location: Chr6:42263619-42292690 bp, + strand Genetic Position: Chr6, 20.57 cM
• Alliance: Clcn1^em1Btlr page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR-targeting deleted 8 bp (TTCCGAAT) and resulted in missense amino acids and a premature stop codon (p.(Phe337GlyfsTer4)). (J:307652)

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
• Carrying any Clcn1 Mutation: 71 strains or lines available

References

• Original: J:307652 Rios JJ, et al., Saturation mutagenesis defines novel mouse models of severe spine deformity. Dis Model Mech. 2021 Jun 1;14(6):dmm048901
• All: 1 reference(s)