|Institutional Source||Beutler Lab|
|Gene Name||distal-less homeobox 3|
|Is this an essential gene?||Not available|
|Stock #||R7297 (G1)|
|Chromosomal Location||95120119-95125296 bp(+) (GRCm38)|
|Type of Mutation||nonsense|
|DNA Base Change (assembly)||C to A at 95120450 bp|
|Amino Acid Change||Tyrosine to Stop codon at position 43 (Y43*)|
|Ref Sequence||ENSEMBL: ENSMUSP00000090443 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000092768]|
|Predicted Effect||probably null
AA Change: Y43*
AA Change: Y43*
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. Trichodentoosseous syndrome (TDO), an autosomal dominant condition, has been correlated with DLX3 gene mutation. This gene is located in a tail-to-tail configuration with another member of the gene family on the long arm of chromosome 17. Mutations in this gene have been associated with the autosomal dominant conditions trichodentoosseous syndrome and amelogenesis imperfecta with taurodontism. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants die at embryonic day 9.5-10.0 with defects in the labyrinthine trophoblast of the chorioallantoic placenta. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dlx3||
(F):5'- CAGCATTTGACTGTGGCTTG -3'
(R):5'- GACTTCCTCTTGCTTGGGAAC -3'
(F):5'- ACAGCCGGCGATGGTCTAAG -3'
(R):5'- GGAACCTTAGAGTCCCTCGCAC -3'