LynM1Btlr
Chemically induced Allele Detail
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Symbol: |
LynM1Btlr |
Name: |
LYN proto-oncogene, Src family tyrosine kinase; mutation 1, Bruce Beutler |
MGI ID: |
MGI:5603319 |
Synonyms: |
Lemon |
Gene: |
Lyn Location: Chr4:3676865-3791613 bp, + strand Genetic Position: Chr4, 2.05 cM
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Alliance: |
LynM1Btlr page
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Strain of Origin: |
C57BL/6J
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Project Collection: |
Beutler Mutagenetix
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Allele Type: |
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Chemically induced (ENU) (Hypomorph) |
Mutation: |
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Single point mutation
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Mutation details: The Lemon mutation is an A to G transition at base pair 3,746,768 (Build 38) on Chromosome 4, which is base pair 68,648 of the genomic region containing Lyn (GenBank NC_000070). The mutation, in the seventh of the gene's 13 exons, corresponds to nucleotide (nt) 794 of the mRNA sequence (NM_001111096) encoding the long isoform of the LYN protein (Lynp56) and to nt 731 of the transcript (NM_010747) encoding the short protein isoform (Lynp53). Alternative splicing of exon 2 produces mRNAs encoding the two protein isoforms, which differ at their amino (N) termini; Lynp56 is 21 amino acids longer than Lynp53. The Lemon mutation results in a histidine (H) to arginine (R) substitution at position 182 (H182R) in the Lynp56 (ENSMUSP00000038838) isoform and at position 162 (H162R) in the Lynp53 (ENSMUSP00000100075) isoform.
(J:214511)
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Inheritance: |
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Semidominant |
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View phenotypes and curated references for all genotypes (concatenated display).
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Original: |
J:214511 Choi JH, et al., Mutagenetix entry for Lemon. Updated on October 29, 2014. MGI Direct Data Submission. 2014; |
All: |
1 reference(s) |
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