Wt1tm1Asc
Targeted Allele Detail
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| Symbol: |
Wt1tm1Asc |
| Name: |
WT1 transcription factor; targeted mutation 1, Andreas Schedl |
| MGI ID: |
MGI:2183640 |
| Synonyms: |
Frasier - |
| Gene: |
Wt1 Location: Chr2:104956874-105003959 bp, + strand Genetic Position: Chr2, 55.06 cM, cytoband E
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| Alliance: |
Wt1tm1Asc page
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| Germline Transmission: |
Earliest citation of germline transmission:
J:71149
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| Parent Cell Line: |
AB1 (ES Cell)
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| Strain of Origin: |
129S7/SvEvBrd-Hprt1+
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| Allele Type: |
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Targeted (Humanized sequence, Modified isoform(s)) |
| Mutations: |
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Insertion, Nucleotide substitutions
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Mutation details: A T to C mutation at the +2 position of intron 9 and a floxed neo cassette (also in intron 9) were introduced via homologous recombination. The point mutation is found in patients with Frasier syndrome and results in the absence of an alternative splice product coding for the 3 amino acids KTS (the KTS region), between zinc fingers 3 and 4, at the end of the long version of exon 9: only the alternative transcript with the short version of exon 9, without the KTS codons, is expressed. The neo cassette was removed by transient expression of cre recombinase in correctly targeted ES cells. RT-PCR analysis using primers to exons 9 and 10 demonstrated the presence of only -KTS transcripts in homozygous mutant animals. The +KTS transcript is completely absent.
(J:71149)
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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 Wt1 Mutation: |
34 strains or lines available
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| Original: |
J:71149 Hammes A, et al., Two splice variants of the Wilms' tumor 1 gene have distinct functions during sex determination and nephron formation. Cell. 2001 Aug 10;106(3):319-29 |
| All: |
5 reference(s) |
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Analysis Tools
