Alx1em1Jian
Endonuclease-mediated Allele Detail
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Symbol: |
Alx1em1Jian |
Name: |
ALX homeobox 1; endonuclease-mediated mutation 1, Rulang Jiang |
MGI ID: |
MGI:7258422 |
Synonyms: |
Alx1del |
Gene: |
Alx1 Location: Chr10:102834564-102865501 bp, - strand Genetic Position: Chr10, 53.56 cM
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Alliance: |
Alx1em1Jian page
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Allele Type: |
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Endonuclease-mediated (Not Applicable) |
Mutation: |
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Intragenic deletion
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Mutation details: CRISPR/Cas9 technology using sgRNAs targeting intron 1 (GTAAGATGTGGGTGGTACT) and intron 2 (TTACTAAGTATAGGGACAGG) deleted exon 2. Sequencing of RT-PCR products confirmed the production of mutant mRNAs from splicing exon 1 to exon 3, which leads to a frame-shift and is predicted to produce a truncated protein containing only the N-terminal region and lacking the homeodomain and the C-terminal Aristaless domain. Western blot analysis confirmed that embryos lack full-length protein and only produce truncated product that is expressed at low levels.
(J:320497)
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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 Alx1 Mutation: |
22 strains or lines available
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Original: |
J:320497 Iyyanar PPR, et al., Alx1 Deficient Mice Recapitulate Craniofacial Phenotype and Reveal Developmental Basis of ALX1-Related Frontonasal Dysplasia. Front Cell Dev Biol. 2022;10:777887 |
All: |
1 reference(s) |
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