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| Nomenclature |
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Symbol:
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Ptpn6me
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Name:
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protein tyrosine phosphatase, non-receptor type 6;
motheaten
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MGI ID: |
MGI:1856073 |
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Synonyms: |
me, SHP-1 deficient |
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Gene:
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Ptpn6
Location:
Chr6:124720707-124738714 bp, - strand
Genetic Position: Chr6,
59.17 cM
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Mutation
origin |
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Strain of Origin:
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C57BL/6J
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Intragenic deletion |
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Mutation details: A single nucleotide (C) deletion at position 228 creates a cryptic splice site. This results in the deletion of a 101bp segment in the encoded transcript, and a frameshift in the encoded protein. (J:11892, J:60297)
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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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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Notes |
Homozygotes are characterized by early onset autoimmunity and severe immunodeficiency (J:5579). Mice develop an unusual pneumonia which progresses to accumulation of crystal-containing macrophages in the alveoli (J:5999). Spleen macrophages of homozygotes have an accelerated rate of proliferation which may contribute to the pulmonary disease (J:7274). The number of surface-Ig-bearing lymphocytes (B-cells) is greatly reduced, and the B-cells present are of immature rather than adult type (J:6065). The number of T-cells is normal, but several T-cell functions are defective. Natural killer cell activity is virtually absent (J:6485).
Genbank ID for this mutation: S63764
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| References |
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Original: |
J:5579
Green MC et al.,
"Motheaten, an immunodeficient mutant of the mouse. I. Genetics and pathology."
J Hered 1975 Sep-Oct;66(5):250-8
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All: |
56 reference(s)
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Analysis Tools
