Card14^em1Maak
Endonuclease-mediated Allele Detail

Summary

• Symbol: Card14^em1Maak
• Name: caspase recruitment domain family, member 14; endonuclease-mediated mutation 1, Masashi Akiyama
• MGI ID: MGI:7861304
• Synonyms: Card14^C127S
• Gene: Card14 Location: Chr11:119198594-119236201 bp, + strand Genetic Position: Chr11, 83.36 cM
• Alliance: Card14^em1Maak page

Mutation origin

• Strain of Origin: C57BL/6JJmsSlc

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology introduced a G to C change at position 380 (c.380G>C) resulting in a cysteine to serine substitution at amino acid 127 (p.Cys127Ser). This is a variant identified in patients with type V pityriasis rubra pilaris. (J:360877)

Disease models

Expression

In Structures Affected by this Mutation:

3 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 Card14 Mutation: 40 strains or lines available

References

• Original: J:360877 Yoshikawa T, et al., Hyperactivation of the IL-17 Axis and IL-36 Signaling in Card14-Mutant Pityriasis Rubra Pilaris Mouse Model. J Invest Dermatol. 2024 Aug 17
• All: 1 reference(s)