Clcn1^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Clcn1^m1Btlr
• Name: chloride channel, voltage-sensitive 1; mutation 1, Bruce Beutler
• MGI ID: MGI:6725084
• Synonyms: Clcn1^V292A
• Gene: Clcn1 Location: Chr6:42263619-42292690 bp, + strand Genetic Position: Chr6, 20.57 cM
• Alliance: Clcn1^m1Btlr page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: ENU mutagenesis induced a point mutation (T to C) that resulted in the amino acid substitution of valine with alanine at position 292 (V292A). (J:307652)
• Inheritance: Recessive

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)