# Recessive SLC25A12 mutation linked to brain defect in Limousin calves in Great Britain

- Published: 2026-11-14 19:13 UTC
- Section: Life & Health › Biology & biochemistry
- Tags: SLC25A12 mutation, porencephaly in cattle, Limousin calves, recessive inheritance, congenital brain defect, cerebellar abiotrophy, missense variant, cattle breeding genetics
- URL: https://realtech.media/news/rt-b66e1b419b7106914120870d_recessive_slc25a12_mutation/

**Geneticists linked porencephaly in British Limousin calves to a homozygous missense variant in SLC25A12. The allele is relevant for breeding decisions.**

![Recessive SLC25A12 mutation linked to brain defect in Limousin calves in Great Britain](https://realtech.media/media/2026/11/08d1e0bf8dbac97d.jpg)
*Amélie Tsaag Valren, Wikimedia Commons, CC BY-SA 4.0*

A recessively inherited variant in the SLC25A12 gene has been linked to porencephaly in Limousin cattle in Great Britain, according to a study in Genetics Selection Evolution. Thirty-four affected calves were reported, and 16 of them underwent clinicopathological investigation. In three cases, whole-genome mapping and sequencing identified a homozygous missense variant on chromosome 2 [1].

## Phenotype of affected calves

The affected calves were blind and stuporous from birth and could not suckle without assistance. Brain examination showed a bilateral symmetrical cavity in the cerebral cortex, which is porencephaly [1].

Some calves also showed ongoing degeneration of the cerebellar cortex, described as cerebellar abiotrophy. It included focal spindle-shaped swellings on the proximal axons of Purkinje cells, known as "torpedoes", in the inner granular layer, and intra-myelinic phagocytes in the white matter of the cerebellar folia [1].

Porencephaly in cattle is often virus-induced. Here, PCR testing excluded common teratogenic viruses, and pedigree analysis pointed to monogenic recessive inheritance [1]. According to bioengineer.org, 24 calves with genealogical records traced back within six generations to a common sire, an artificial insemination bull named Sy, born in France in 2001 and exported to the United Kingdom.

## Genetic findings

Mapping identified a unique homozygous region of 1.2 Mb on chromosome 2. It contains a private homozygous missense variant in SLC25A12 (NM_001101194.2: c.1742G > A; NP_001094664.1: p.(Arg581Gln)) in three cases. The variant was absent in more than 5,000 control genomes [1].

The gene encodes a calcium-binding mitochondrial carrier protein and is a known candidate for neurogenetic disorders. Genotyping confirmed recessive inheritance in a random study cohort of British Limousins. The allele frequency was close to 0% in the studied French and Swiss Limousin populations [1].

The authors describe this as the first SLC25A12-related neurodevelopmental disorder in a domestic animal species and assume that the variant impairs the normal function of the protein. They propose it as a new spontaneous large-animal model for similar human conditions [1].

The authors recommend considering the allele in breeding programs to prevent risk matings. Because several neurogenetic disorders share their morphology with virus-induced malformations, they advise virus testing for aborted, stillborn or live-born calves with porencephaly alongside a possible genetic cause [1].

## Sources

1. [Genetics Selection Evolution](https://doi.org/10.1186/s12711-026-01057-6)
2. [bioengineer.org](https://bioengineer.org/recessive-slc25a12-gene-mutation-causes-congenital-brain-defect-in-limousin-cattle)

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Source: RealTech, realtech.media — https://realtech.media/news/rt-b66e1b419b7106914120870d_recessive_slc25a12_mutation/