Cst6^ichq
Spontaneous Allele Detail

Summary

• Symbol: Cst6^ichq
• Name: cystatin E/M; harlequin ichthyosis
• MGI ID: MGI:2447068
• Synonyms: ichq
• Gene: Cst6 Location: Chr19:5394733-5399602 bp, - strand Genetic Position: Chr19, 4.3 cM, cytoband A
• Alliance: Cst6^ichq page

Mutation origin

• Strain of Origin: BALB/cJ

Mutation description

• Allele Type: Spontaneous (Null/knockout)
• Mutations: Intragenic deletion, Nucleotide substitutions
• Mutation details: The ichq mutation arose spontaneously in a colony of BALB/c mice at The Jackson Laboratory in 1989. The molecular basis for this mutation is a single nucleotide deletion of a G residue at sequence position 42 in exon 1 of the Cst6 gene. This results in a shift of the reading frame, resulting in a premature stop codon at amino acid position 20 of the encoded protein. In addition to the single nucleotide deletion, the mutant allele also carried two C-to-T SNPs in exon 1 at positions 33 and 40. Immunohistochemical analysis confirmed the predicted absence of cystatin M/E at the protein level in homozygous mice. (J:79976)
• Inheritance: Recessive

Disease models

Expression

In Mice Carrying this Mutation:	2 assay results
In Structures Affected by this Mutation:	7 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Cst6 Mutation: 5 strains or lines available

References

• Original: J:41426 Sundberg JP, et al., Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis. Am J Pathol. 1997 Jul;151(1):293-310
• All: 6 reference(s)