OMIA:003092-9986 : Atherosclerosis, LAMB2-related in Oryctolagus cuniculus (rabbit)

Categories: Cardiovascular system phene , Homeostasis / metabolism phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 150325 (gene)

Single-gene trait/disorder: yes

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2026

Molecular basis: Zhang et al. (2026): "a rabbit model carrying the homologous LAMB2 p.E991K mutation was generated using the CRISPR/Cas9-SpG system and subjected to a high-fat diet to induce atherosclerosis." This study involves gene edited or genetically modified organisms (GMO).

Genetic engineering: Yes - variants have been created artificially, e.g. by genetic engineering or gene editing
Have human generated variants been created, e.g. through genetic engineering and gene editing

Clinical features: Zhang et al. (2026): "LAMB2 mutant rabbits exhibited increased body weight and significant lipid metabolic abnormalities." 

Pathology: Zhang et al. (2026): "Oil Red O staining demonstrated enhanced lipid accumulation and larger atherosclerotic plaques in the aorta. ...  Laminin β2 (LAMB2) expression was markedly decreased and accompanied by basement membrane disruption." 

Breed: New Zealand White (Rabbit) (VBO_0001269).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
LAMB2 laminin subunit beta 2 Oryctolagus cuniculus 10 NC_142876.1 (101387748..101400597) LAMB2 Ensembl, NCBI gene

Variants

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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 Variant Type Variant Effect Source of Genetic Variant AVCG Pathogenicity Classification* Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
1948 New Zealand White (Rabbit) Atherosclerosis LAMB2 substitution missense Genome-editing (CRISPR-Cas9) Not currently evaluated mOryCun1.1 10 NC_091441.1:g.100044412G>A XM_070050806.1:c.2971G>A XP_069906907.1:p.(E991K) 2026 42510860

* Variant pathogenicity for single-gene diseases as evaluated according to the Animal Variant Classification Guidelines (AVCG) by the Variant Pathogenicity Working Group of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization (AGTS) Standing Committee: P = pathogenic, LP = likely pathogenic, VUS = variant of unknown significance, LB = likely benign, B = benign. For more information (including details on the classification of each variant) see LINKS.

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Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2026). OMIA:003092-9986: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

2026 Zhang, R., Mu, C., Yang, S., Jiang, L. :
LAMB2 p.E991K mutation-mediated atherosclerosis in rabbit. Genes (Basel) 17:820, 2026. Pubmed reference: 42510860. DOI: 10.3390/genes17070820.

Edit History


  • Created by Imke Tammen on 06 Oct 2026
  • Changed by Imke Tammen on 06 Oct 2026