Chn1tm1.1Ece
Targeted Allele Detail
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| Symbol: |
Chn1tm1.1Ece |
| Name: |
chimerin 1; targeted mutation 1.1, Elizabeth C Engle |
| MGI ID: |
MGI:6406374 |
| Synonyms: |
Chn1KI |
| Gene: |
Chn1 Location: Chr2:73441004-73605690 bp, - strand Genetic Position: Chr2, 43.78 cM
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| Alliance: |
Chn1tm1.1Ece page
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| Germline Transmission: |
Earliest citation of germline transmission:
J:243785
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| Parent Cell Line: |
Not Specified (ES Cell)
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| Strain of Origin: |
Not Specified
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| Allele Type: |
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Targeted (Conditional ready, Humanized sequence) |
| Mutations: |
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Insertion, Single point mutation
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Mutation details: Exon 3 was replaced with a loxP-flanked exon 3 in which an A to T missense change at position 60 was introduced in exon 3, resulting in a leucine to phenylalanine substitution at amino acid 20 (L20F). An FRT-flanked neomycin selection cassette that was inserted upstream of exon 3 was removed via Flp-mediated recombination. The L20F substitution segregated in a family with Duane retraction syndrome.
(J:243785)
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View phenotypes and curated references for all genotypes (concatenated display).
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| Mouse strains and cell lines
available from the International Mouse Strain Resource
(IMSR) |
| Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available
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| Carrying any Chn1 Mutation: |
44 strains or lines available
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| Original: |
J:243785 Nugent AA, et al., Mutant alpha2-chimaerin signals via bidirectional ephrin pathways in Duane retraction syndrome. J Clin Invest. 2017 May 01;127(5):1664-1682 |
| All: |
1 reference(s) |
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Analysis Tools
