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| Nomenclature |
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Symbol:
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Cst6ichq
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Name:
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cystatin E/M;
harlequin ichthyosis
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MGI ID: |
MGI:2447068 |
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Synonyms: |
ichq |
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Gene:
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Cst6
Location:
Chr19:5344705-5349574 bp, - strand
Genetic Position: Chr19,
4.3 cM, cytoband A
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Mutation
origin |
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Strain of Origin:
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BALB/cJ
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutations: | |
Nucleotide substitutions, Intragenic deletion |
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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)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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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
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All: |
5 reference(s)
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Analysis Tools
