Emilin2em1(IMPC)J
Endonuclease-mediated Allele Detail
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Symbol: |
Emilin2em1(IMPC)J |
Name: |
elastin microfibril interfacer 2; endonuclease-mediated mutation 1, Jackson |
MGI ID: |
MGI:6151442 |
Gene: |
Emilin2 Location: Chr17:71559167-71618551 bp, - strand Genetic Position: Chr17, 41.87 cM
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Alliance: |
Emilin2em1(IMPC)J page
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IMPC: |
Emilin2 gene page |
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Strain of Origin: |
C57BL/6NJ
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Project Collection: |
IMPC
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Allele Type: |
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Endonuclease-mediated (Null/knockout) |
Mutation: |
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Intragenic deletion
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Mutation details: This allele was generated at The Jackson Laboratory by injecting Cas9 RNA and 2 guide sequences TGGTGTTGTTACCAAGGACA and GGAGACTCTCTTAAAACTAG, which resulted in a 300 bp deletion beginning at Chromosome 17 position 71,280,606 bp and ending after 71,280,905 bp (GRCm38/mm10). This mutation deletes ENSMUSE00000235473 (exon 3) and 124 bp of flanking intronic sequence including the splice acceptor and donor. In addition, there is a 6 bp insertion (TCTAAG) at the deletion site, that will not alter the results of the exon deletion. This deletion is predicted to cause a change of amino acid sequence after residue 91 and early truncation 7 amino acids later.
(J:188991)
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Inheritance: |
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Not Specified |
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View phenotypes and curated references for all genotypes (concatenated display).
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Original: |
J:188991 The Jackson Laboratory, Alleles produced for the KOMP project by The Jackson Laboratory. MGI Direct Data Submission. 2012; |
All: |
3 reference(s) |
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