Zeb1Tw
Spontaneous Allele Detail
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Symbol: |
Zeb1Tw |
Name: |
zinc finger E-box binding homeobox 1; twirler |
MGI ID: |
MGI:1861230 |
Gene: |
Zeb1 Location: Chr18:5591860-5775467 bp, + strand Genetic Position: Chr18, 4.42 cM
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Alliance: |
Zeb1Tw page
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Inner ear morphology, hearing thresholds, and otoconia of Zeb1Tw/Zeb1+ and Zeb1Tw/Zeb1Tw mice
Show the 3 phenotype image(s) involving this allele.
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Allele Type: |
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Spontaneous |
Mutation: |
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Single point mutation
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Mutation details: A single nucleotide G-to-A substitution at chr18:5592148 (GRCm38) is located 181 bp downstream of Zeb1 exon 1 and 12 bp downstream of exon 1 of overlapping lncRNA Gm10125 on the opposite strand. This mutation does not affect the adjacent splicing site but does disrupt a predicted Myb binding site. An electrophoretic mobility shift assay demonstrated that a probe carrying this mutation does not interfere with Myb binding, unlike a probe with the wild-type sequence. RT-PCR analysis showed that expression of transcripts containing exons 1a and 2 and exons 2 and 3 were increased compared to wild-type controls.
(J:177274)
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Inheritance: |
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Semidominant |
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Linkage mapping and identification of the Zeb1Tw mutation |
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View phenotypes and curated references for all genotypes (concatenated display).
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Original: |
J:274 LYON MF, Twirler: a mutant affecting the inner ear of the house mouse. J Embryol Exp Morphol. 1958 Mar;6(1):105-16 |
All: |
9 reference(s) |
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