Wt1^tm1Asc
Targeted Allele Detail

Summary

• Symbol: Wt1^tm1Asc
• 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
• Alliance: Wt1^tm1Asc page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:71149
• Parent Cell Line: AB1 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1⁺

Mutation description

• Allele Type: Targeted (Humanized sequence, Modified isoform(s))
• Mutations: Insertion, Nucleotide substitutions
• 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)

Expression

In Mice Carrying this Mutation:	20 assay results 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	1 anatomical structure(s)

Find Mice (IMSR)

• 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
• Carrying any Wt1 Mutation: 34 strains or lines available

References

• 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)