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Spontaneous Allele Detail
Symbol: Cst6ichq
Name: cystatin E/M; harlequin ichthyosis
MGI ID: MGI:2447068
Synonyms: ichq
Gene: Cst6  Location: Chr19:5344705-5349574 bp, - strand  Genetic Position: Chr19, 4.3 cM, cytoband A
Strain of Origin:  BALB/cJ
Allele Type:    Spontaneous
Mutations:    Intragenic deletion, Nucleotide substitutions
Mutation detailsThe 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
View phenotypes for all genotypes (concatenated display).
Disease models
In Mice Carrying this Mutation: 2 assay results
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:  3 strains or lines available
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:  5 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.03
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