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Protein Coding Gene : Ahdc1 AT hook, DNA binding motif, containing 1

Primary Identifier  MGI:2444218 Organism  mouse, laboratory
Chromosome  4 NCBI Gene Number  230793
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Predicted to enable DNA-binding transcription factor activity and promoter-enhancer loop anchoring activity. Involved in mesoderm formation and skin morphogenesis. Predicted to be located in chromosome. Predicted to be active in nucleus. Is expressed in brain; embryo; and limb. Used to study Xia-Gibbs Syndrome. Human ortholog(s) of this gene implicated in Xia-Gibbs Syndrome. Orthologous to human AHDC1 (AT-hook DNA binding motif containing 1).
PHENOTYPE: Mosaic mice with CRISPR cutting on at least one allele exhibit developmental patterning defects affecting craniofacial structure, abdominal wall closure and epidermal stratification that mirror phenotypes seen in Xia-Gibbs syndrome. [provided by MGI curators]
  • synonyms:
  • AT hook, DNA binding motif, containing 1,
  • RIKEN cDNA D030015G18 gene,
  • D030015G18Rik,
  • Ahdc1

Features --> Cross References

Genome

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

4 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

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Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

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Disease

Mouse features --> Human diseases

Literature

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0 Driver For