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| Nomenclature |
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Symbol:
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Ank1M1Wlst
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Name:
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ankyrin 1, erythroid;
Mutation 1, William L Stanford
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MGI ID: |
MGI:4947988 |
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Synonyms: |
Ank1E924X, ENU7192 |
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Gene:
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Ank1
Location:
Chr8:22974844-23150497 bp, + strand
Genetic Position: Chr8,
11.42 cM
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Mutation
origin |
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Strain of Origin:
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C57BL/6
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Mutation
description |
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Allele
Type: | |
Chemically induced (ENU) |
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Mutation: | |
Single point mutation |
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Mutation details: ENU mutagenesis induced a G to T transition in exon 27 that results in the amino acid substitution of a stop codon for glutamic acid at position 924 (E924X). Western blot analysis confirmed the expression of a truncated protein. (J:170562)
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Inheritance: | |
Dominant |
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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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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Ank1 Mutation:
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5 strains or lines available |
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| References |
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Original: |
J:170562
Hughes MR et al.,
"A novel ENU-generated truncation mutation lacking the spectrin-binding and C-terminal regulatory domains of Ank1 models severe hemolytic hereditary spherocytosis."
Exp Hematol 2011 Mar;39(3):305-20, 320.e1-2
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All: |
2 reference(s)
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Analysis Tools
