Mice heterozygous for the twirler mutation (Zeb1Tw) display head-shaking and circling behavior but are not deaf. There are morphological abnormalities of the inner ear which consist of irregularities in the outline of the semicircular canals, sometimes amounting to branching, and reduction or absence of otoliths. Moderate astrocytosis in the vestibular nuclei and cerebellar white matter has been reported. Homozygotes have cleft lip and palate or cleft palate only. They die within 24 hours after birth. Viability and fertility are normal except that adults tend to become obese and may then become sterile. Penetrance is incomplete. This strain is also carrying the sombre (Mc1rE-so) and extra toes-Jackson (Gli3St-J) mutations. Extra toes-J heterozygotes have varying numbers of extra digits on preaxial side of feet. Homozygotes die in utero with multiple abnormalities. Excessively large pharyngeal arches and an open neural tube a...
|Allele Type||Gene Symbol||Gene Name|
|Spontaneous||Gli3||GLI-Kruppel family member GLI3|
|Allele Type||Gene Symbol||Gene Name|
|Spontaneous||Mc1r||melanocortin 1 receptor|
|Allele Type||Gene Symbol||Gene Name|
|Spontaneous||Zeb1||zinc finger E-box binding homeobox 1|
Mice heterozygous for the twirler mutation (Zeb1Tw) display head-shaking and circling behavior but are not deaf. There are morphological abnormalities of the inner ear which consist of irregularities in the outline of the semicircular canals, sometimes amounting to branching, and reduction or absence of otoliths. Moderate astrocytosis in the vestibular nuclei and cerebellar white matter has been reported. Homozygotes have cleft lip and palate or cleft palate only. They die within 24 hours after birth. Viability and fertility are normal except that adults tend to become obese and may then become sterile. Penetrance is incomplete. This strain is also carrying the sombre (Mc1rE-so) and extra toes-Jackson (Gli3St-J) mutations. Extra toes-J heterozygotes have varying numbers of extra digits on preaxial side of feet. Homozygotes die in utero with multiple abnormalities. Excessively large pharyngeal arches and an open neural tube are evident at E9.
|Allele Name||extra toes Jackson|
|Allele Synonym(s)||Gli3-; Gli3Xt; Gli3XtJ; Gli3delta; XtJ; XtJ; extra-toes J; xt|
|Gene Symbol and Name||Gli3, GLI-Kruppel family member GLI3|
|Gene Synonym(s)||ACLS; AI854843; AU023367; Bph; Bph; GCPS; GLI3-190; GLI3FL; PAP-A; PAPA; PAPA1; PAPB; PHS; PPDIV; Pdn; Xt; add; anterior digit pattern deformity; brachyphalangy; brachyphalangy; expressed sequence AI854843; expressed sequence AU023367; extra toes; polydactyly Nagoya|
|Strain of Origin||C3H/HeJ|
|General Note||Genbank ID for this allele: AF418601 |
Phenotypic Similarity to Human Syndrome: lambdoid suture craniosynostosis in homozygous mice (J:163175)
|Molecular Note||Genomic sequencing and PCR analysis identified the mutation as a 51.5 kb deletion. The deleted region contains all Gli3 coding sequences 3' to exon 9, which includes sequences encoding some, but not all, of the zinc finger domains. This deletion resultsin the expression of an abnormal transcript that fuses Gli3 sequences to an exon belonging to an apparent LTR/MaLR repetitive element. However, this transcript lacks the sequences required for normal GLI3 activity.|
|Allele Synonym(s)||Eso; So|
|Gene Symbol and Name||Mc1r, melanocortin 1 receptor|
|Gene Synonym(s)||CMM5; MSH-R; Mshra; Mshra; SHEP2; Tob; e; e; extension recessive yellow; extension, recessive yellow; melanocyte hormone receptor alpha; tobacco darkening|
|Strain of Origin||C3H|
|Molecular Note||A T-to-C mutation in codon 96 is predicted to result in a leucine to proline alteration at this position.|
|Gene Symbol and Name||Zeb1, zinc finger E-box binding homeobox 1|
|Gene Synonym(s)||3110032K11Rik; 3110032K11Rik; AREB6; BZP; DELTAEF1; FECD6; MEB1; NIL2A; Nil2; Nil2; PPCD3; RIKEN cDNA 3110032K11 gene; TCF8; Tcf18; Tcf18; Tcf8; Tcf8; Tw; Tw; ZEB; ZFHEP; ZFHX1A; Zfhep; Zfhx1a; Zfhx1a; Zfx1a; Zfx1a; [delta]EF1; deltaEF1; transcription factor 18; transcription factor 8; twirler; zinc finger homeobox 1a|
|Strain of Origin||STOCK PCS|
|Molecular Note||A single nucleotide G to A substitution is located 181 bp downstream of Zeb1 exon 1 and 12 bp downstream of exon 1 of the predicted gene Gm10125. 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.|
The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided,
their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of
each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders
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