OMIA:002847-9615 : Microphthalmia with haematopoietic defects, DNAJC21-related in Canis lupus familiaris (dog)

Categories: Vision / eye phene , Haematopoietic system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 617048 (gene) , 617052 (trait)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2024

Species-specific name: Canine congenital microphthalmos with hematopoietic defects

Mapping: Murgiano et al. (2024): "Genome-wide association study and homozygosity mapping detected a 2 Mb candidate region on canine chromosome 4."

Molecular basis: Murgiano et al. (2024): "Whole-genome sequencing and mapping against the Canfam4 reference revealed a Short interspersed element insertion in exon 2 of the DNAJC1 gene (g.74,274,883ins[T70]TGCTGCTTGGATT). Subsequent real-time PCR-based mass genotyping of a larger Portuguese water dog population found that the homozygous mutant genotype was perfectly associated with the Canine Congenital Microphthalmos with Hematopoietic Defects phenotype."

Clinical features: Murgiano et al. (2024) report a syndromic disorder characterized by microphthalmia, tooth enamel malformations, stunted growth, anemia, and thrombocytopenia in the Portuguese water dog.

Breed: Portuguese Water Dog (Dog) (VBO_0201077).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 Canis lupus familiaris 4 NC_051808.1 (73877695..73833571) DNAJC21 Homologene, Ensembl , NCBI gene


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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
1687 Portuguese Water Dog (Dog) Microphthalmos with hematopoietic defects, congenital DNAJC21 insertion, gross (>20) Naturally occurring variant UU_Cfam_GSD_1.0 4 NC_049225.1:g.74274883ins[T70]TGCTGCTTGGATT 2024 38682429

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002847-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset].


2024 Murgiano, L., Banjeree, E., O'Connor, C., Miyadera, K., Werner, P., Niggel, J.K., Aguirre, G.D., Casal, M.L. :
A naturally occurring canine model of syndromic congenital microphthalmia. G3 (Bethesda) :jkae067, 2024. Pubmed reference: 38682429. DOI: 10.1093/g3journal/jkae067.

Edit History

  • Created by Imke Tammen2 on 30 Apr 2024
  • Changed by Imke Tammen2 on 01 May 2024