This strain carries the dominant sombre mutation, giving the mice a nonagouti resemblance, along with a spontaneous mutation at the Gli3 locus characterized by polydactyly.Read More +
This strain is homozygous for Mc1rE-so and Pde6brd1 and segregating for Gli3Xt-J.
Mice heterozygous for the extra toes-J spontaneous mutation (Gli3Xt-J) have varying numbers of extra digits on preaxial side of feet. Homozygous mutant mice die in utero with multiple abnormalities. Excessively large pharyngeal arches and an open neural tube are evident at E9. Homologous to Grieg's cephalopoly-syndactyly, a rare multi-system syndrome in humans. This strain is homozygous for the sombre mutation (Mc1rE-so).
|Allele Synonym(s)||sombre; Mc1rE-so|
|Gene Symbol and Name||Mc1r, melanocortin 1 receptor|
|Gene Synonym(s)||Mshra; SHEP2; extension recessive yellow; CMM5; tobacco darkening; e; Tob; MSH-R; e; melanocyte hormone receptor alpha; Mshra; extension, recessive yellow; Mcr1|
|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.|
|Allele Name||extra toes Jackson|
|Allele Synonym(s)||Gli3Xt-J; extra toes Jackson|
|Gene Symbol and Name||Gli3, GLI-Kruppel family member GLI3|
|Gene Synonym(s)||Bph; anterior digit pattern deformity; Pdn; brachyphalangy; GCPS; Xt; PAPB; brachyphalangy; ACLS; polydactyly Nagoya; extra toes; AI854843; expressed sequence AU023367; AU023367; add; PHS; PPDIV; PAPA1; PAPA; PAP-A; GLI3-190; GLI3FL; expressed sequence AI854843; Bph|
|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.|
Gli3Xt-J/+ may have a white belly spot.
When using the sombre mouse strain in a publication, please cite the originating article(s) and include JAX stock #001533 in your Materials and Methods section.
|Heterozygous or Wild-type for Gli3<Xt-J>, Heterozygous for Mc1r<E-so>|
We will fulfill your order by providing at least two carriers for each strain ordered. The total number, sex, and genotypes provided will vary, although typically 8 or more animals are provided. Please check genotypes which will be recovered. While the genotypes of all animals produced will be communicated to you prior to scheduling shipment, the genotypes of animals provided may not reflect the mating scheme and genotypes described in the strain description. Animals are typically ready to ship in 11-14 weeks. If a second recovery is required to produce the minimum number of animals, then delivery time would increase to approximately 25 weeks. If we fail to produce animals of the correct genotype, you will not be charged. We cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.
Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation.
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