Categories: Mortality / aging (incl. embryonic lethal)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive lethal

Considered a defect: yes

Key variant known: no

Species-specific description: Following the excellent example from dairy cattle, Häggman and Uimari (2017) searched the genomes of 871 Finnish Yorkshire AI boars for SNP haplotypes with reasonable frequency that never occur homozygously. Of 26 putative lethal haplotypes identified, one (8-2026) was associated with number of stillborn piglets.

Mapping: Häggman and Uimari (2017) genotyped 871 Finnish Yorkshire AI boars with the Illumina PorcineSNP60 Beadchip: "We detected altogether 26 putative lethal haplotypes, but only one haplotype on chromosome 8 (position 107.0–113.3 Mb) was significantly associated with traits NSB1 [number of stillborn piglets in first parity] and NSB2 [number of stillborn piglets in later parity]. Three possible candidate genes were found in this chromosomal region: MAD2LI, FGF2 and ANXA5." (Edited by Emmi Payten 24/8/2021)

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Clinical features: Häggman and Uimari (2017): “Compared to non-carrier sires, boars carrying one copy of haplotype 8-2026 had 0.15 ± 0.04 (p-value = 8.95 x 10^-5) piglets higher dEBV [deregressed estimated breeding value] for NSB1 and 0.13 ± 0.04 (p-value = 6.78 x 10^-4) piglets higher dEBV for NSB2. Using the original EBVs, the difference in the average number of stillborn piglets between carriers and non-carriers was 0.13 ± 0.03 piglets (p-value = 7.78 x 10^-7) for NSB1 and 0.12 ± 0.03 piglets (p-value = 1.62 x 10^-6) for NSB2.”

Prevalence: Häggman and Uimari (2017) described that "the carrier frequency of a putative lethal was between 0.16 and 0.30 ...". (Edited by Emmi Payten 24/8/2021)

Breed: Large White, Finland (Pig) (VBO_0012408).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below