Gene Expression Data
Assay Details
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Assay
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Reference:
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J:283448
Sun SC, et al., Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease. Brain. 2019 Aug 1;142(8):2215-2229
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Assay type:
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Immunohistochemistry
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MGI Accession ID:
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MGI:6401176
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Gene symbol:
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Nefh
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Gene name:
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neurofilament, heavy polypeptide
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Results
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Specimen
6D +/+:
postnatal month 4
(more  )
Specimen
6D +/+:
(close  )
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Genetic Background:
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C57BL/6J
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Age:
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postnatal month 4
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Sex:
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Not Specified
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Type:
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whole mount
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Fixation:
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4% Paraformaldehyde
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Specimen
6D +/I121N:
postnatal month 4; Cfap276em1Fuxi/Cfap276 +
(more )
Specimen
6D +/I121N:
(close )
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Genetic Background:
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C57BL/6J-Cfap276em1Fuxi
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Mutant Allele(s):
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Cfap276em1Fuxi/Cfap276+
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Age:
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postnatal month 4
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Sex:
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Not Specified
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Type:
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whole mount
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Fixation:
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4% Paraformaldehyde
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| Structure |
Level |
Pattern |
Image |
Note |
| TS28: sciatic nerve |
Present |
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6D +/I121N
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An abnormal distribution of neurofilaments and increase in the number of Schmidt-Lanternman incisures and internodal length were observed in the mutants.
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Specimen
6D I121N/I121N:
(close )
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Genetic Background:
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C57BL/6J-Cfap276em1Fuxi
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Mutant Allele(s):
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Cfap276em1Fuxi/Cfap276em1Fuxi
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Age:
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postnatal month 4
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Sex:
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Not Specified
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Type:
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whole mount
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Fixation:
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4% Paraformaldehyde
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| Structure |
Level |
Pattern |
Image |
Note |
| TS28: sciatic nerve |
Present |
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6D I121N/I121N
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An abnormal distribution of neurofilaments and increase in the number of Schmidt-Lanternman incisures and internodal length were observed in the mutants.
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Analysis Tools
