|Allele Type||Gene Symbol||Gene Name|
|Spontaneous||Mc1r||melanocortin 1 receptor|
|Allele Type||Gene Symbol||Gene Name|
|Spontaneous||Gli3||GLI-Kruppel family member GLI3|
|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.
The somber allele of the melanocortin one receptor arose in the C3H/Bt strain at Edinburgh before 1961. The Jackson laboratory received this allele from Dr. M. Foster at U. of Michigan who had received it from Dr. N. Bateman, Edinburgh about 1964 on a C3H background. Extra toes Jackson (Xt-J) arose spontaneously in C3H/HeJ around 1961. Twirler (Tw) was received from Dr. M. Lyon, Harwell in 1961 accompanied by ataxia (ax). A twirler male was crossed to a caracul (Ca) steel (Sl) female and the Ca Sl Tw linkage testing stock was started by Dr. M.C. Green. This stock was sibling mated with occasional outcrosses to C57BL/6J. In 1967 a Tw/+ male from this stock was mated to a somber female and the E-so Tw offspring was mated to a C3H/HeJ-Gli3Xt-J. Also in 1967 Tw was replaced in the Ca Sl Tw stock by hammer toe (Hm). From the cross of twirler to somber the E-so/E-so Tw/+ Xt-J/+ linkage testing stock, STX/Le, was developed and was bred by sibling matings. In 1988 at approximately generation F72 twirler was bred out of the stock. However, before twirler was bred out this stock was cryopreserved in 1988 with all three mutations as Mc1rE-so/Mc1rE-so Tw/+ Gli3Xt-J/+ in the male mated to a C3HeB/FeJ female.
|Allele Synonym(s)||Eso; So|
|Gene Symbol and Name||Mc1r, melanocortin 1 receptor|
|Strain of Origin||C3H|
|Molecular Note||A T-to-C mutation in codon 98 is predicted to result in a leucine to proline alteration at this position (p.L98P).|
|Allele Name||extra toes Jackson|
|Allele Synonym(s)||extra-toes J; Gli3-; Gli3delta; Gli3Xt; Gli3XtJ; xt; XtJ; XtJ|
|Gene Symbol and Name||Gli3, GLI-Kruppel family member GLI3|
|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 results in 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.|
|Gene Symbol and Name||Zeb1, zinc finger E-box binding homeobox 1|
|Strain of Origin||STOCK PCS|
|Molecular Note||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.|
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