OMIA:002700-9615 : Hyposegmentation of granulocytes in Canis lupus familiaris (dog)

Categories: Haematopoietic system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 610007 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: unknown

Key variant known: yes

Year key variant first reported: 2023

Cross-species summary: This phenotype is characterized by hyposegmented nuclei of granulocytes. The phenotype resembles Pelger-Huët anomaly, but is caused by variants in the LMBR1L gene.

Species-specific description: The phenotype has initially been termed Pelger-Huët anomaly due to the phenotypic similarity with human Pelger-Huët anomaly. However, the human Pelger-Huët anomaly is caused by variants in the LBR gene, while this entry refers to an LMBR1L-related phenotype characterized by hyposegmented granulocytes.

History: Due to the phenotypic similarity with human Pelger-Huët anomaly, Latimer et al. (2000) initially hypothesized about an autosomal semidominant inheritance with embryonic lethality in homozygous mutant dogs. With the identification of the causative genetic variant in the LMBR1L gene, an autosomal recessive mode of inheritance has been conclusively established. The trait is probably not associated with any gross health problems and is not homologous to human Pelger-Huët anomaly.

Mapping: Lourdes Frehner et al. (2023): "Genome-wide association mapped the HG locus to chromosome 27 and established an autosomal recessive mode of inheritance. "

Molecular basis: Lourdes Frehner et al. (2023): "Whole genome sequencing identified a splice site variant in LMBR1L, c.191+1G>A, as most likely causal variant for the HG phenotype. The mutant allele abrogates the expression of the longer X2 isoform but does not affect transcripts encoding the shorter X1 isoform of the LMBR1L protein."

Prevalence: Lourdes Frehner et al. (2023): "The homozygous mutant LMBR1L genotype associated with HG is common in Australian Shepherd Dogs and was found in 39 of 300 genotyped dogs (13%)."

Breed: Australian Shepherd (Dog) (VBO_0200095).
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
LMBR1L limb development membrane protein 1-like Canis lupus familiaris 27 NC_051831.1 (5526748..5539570) LMBR1L 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
1583 Australian Shepherd (Dog) Hyposegmentation of granulocytes LMBR1L splicing Naturally occurring variant UU_Cfam_GSD_1.0 27 g.41169674C>T c.191+1G>A XM_038577534.1 2023 37347778

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002700-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset].


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2023 Lourdes Frehner, B., Christen, M., Reichler, I.M., Jagannathan, V., Novacco, M., Riond, B., Peters, L.M., Suárez Sánchez-Andrade, J., Pieńkowska-Schelling, A., Schelling, C., Kipar, A., Leeb, T., Balogh, O. :
Autosomal recessive hyposegmentation of granulocytes in Australian Shepherd Dogs indicates a role for LMBR1L in myeloid leukocytes. PLoS Genet 19:e1010805, 2023. Pubmed reference: 37347778. DOI: 10.1371/journal.pgen.1010805.
2000 Latimer, K.S., Campagnoli, R.P., Danilenko, D.M. :
Pelger-Huet anomaly in Australian shepherds: 87 cases (1991-1997) Comparative Haematology International 10:9-13, 2000.
1989 Latimer, K.S., Kircher, I.M., Lindl, P.A., Dawe, D.L., Brown, J. :
Leukocyte function in Pelger-Huët anomaly of dogs. J Leukoc Biol 45:301-10, 1989. Pubmed reference: 2649629. DOI: 10.1002/jlb.45.4.301.

Edit History

  • Created by Tosso Leeb on 16 May 2023
  • Changed by Tosso Leeb on 16 May 2023
  • Changed by Imke Tammen2 on 25 Jun 2023