Etaa1m1Anu
Chemically induced Allele Detail
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| Symbol: |
Etaa1m1Anu |
| Name: |
Ewing tumor-associated antigen 1; mutation 1, Australian National University |
| MGI ID: |
MGI:6343404 |
| Synonyms: |
Etaa1deltaEx2 |
| Gene: |
Etaa1 Location: Chr11:17888756-17903875 bp, - strand Genetic Position: Chr11, 10.44 cM
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| Alliance: |
Etaa1m1Anu page
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| Strain of Origin: |
C57BL/6NCrl
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| Project Collection: |
APF ENU Mutagenesis
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| Allele Type: |
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Chemically induced (ENU) (Null/knockout) |
| Mutation: |
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Single point mutation
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Mutation details: The molecular lesion is a point mutation in the intron between exons 2 and 3, predicted to be damaging because it substitutes a C nucleotide for the essential +2 T of the splice donor consensus sequence. Mutant transcripts show several aberrant splicing patterns, all of which result in a frame-shift and premature stop codons. This exon 2 skipping allele deletes Gly78-Leu119.
(J:244584)
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| Original: |
J:244584 Miosge LA, et al., Systems-guided forward genetic screen reveals a critical role of the replication stress response protein ETAA1 in T cell clonal expansion. Proc Natl Acad Sci U S A. 2017 Jun 27;114(26):E5216-E5225 |
| All: |
1 reference(s) |
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