Phenotypes

This disorder in cattle appears to be a good animal model for neurofibromatosis type 1 (NF1) in humans, which is an autosomal dominant disorder due to mutations in a gene also called NF1. However, at this stage there is insufficient evidence in cattle to justify a conclusion of single-locus inheritance, and, despite some tantalising evidence presented by Sartin et al. (1994), showing apparent co-segregation of clinical signs with an RFLP at th...

Jacinto et al. (2021) "characterize the clinicopathologic features of a Belgian Blue x Holstein crossbred calf with paradoxical myotonia congenita, craniofacial dysmorphism, and myelodysplasia, and ... identify the most likely genetic etiology."

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Reith et al. (2024): "Whole-genome sequencing (WGS) of 7 blind cattle and 9 unaffected relatives revealed a 1-bp frameshift deletion in ceroid lipofuscinosis neuronal 3 (CLN3; chr25 g.26043843del) for which the blind cattle were homozygous and their parents heterozygous. The identified variant in exon 16 of 17 is predicted to truncate the encoded protein (p. Pro369Argfs*8) ... ."

Using the comparative positional candidate gene approach (based on similarities of the bovine clinical signs with the homologous human disorder, and the mapping results mentioned above), Houweling et al. (2006; Biochim Biophys Acta 1762:890-7) sequenced CLN5 genomic DNA and cDNA from affected and normal Devon cattle, identifying the causal mutation as a "single base duplication in exon 4 of bovine CLN5 (c.662dupG) . . . . This duplication resu...

In cattle, neuronal ceroid lipofuscinosis has been described in an inbreed herd of Beefmaster cattle in 1969 in the USA and in a herd of Devon cattle in Australia in 1988. The disease is characterised predominantly by blindness and behavioural changes. The clinical signs and the pathological findings are similar in both breeds, with less detailed records for the Beefmaster cattle. Nevertheless, NCL in Beefmaster and Devon cattle could represen...

In a press release issued on 20 November 2020, the American Jersey Cattle Association announced that "A new undesirable genetic factor, known as Jersey Neuropathy with Splayed Forelimbs (JNS), has been identified in the Jersey breed."

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Woolley et al. (2020) report clinical signs, pathology, fibroblast cell culture analysis and identification of a likely disease causing mutation for Niemann-Pick type C disease in Australian Angus/Angus-cross calves.

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As reported by Hollman et al. (2017), via a personal communication from Dr Jon Beever, "An amino acid exchange in the Ras-related Protein Rab-38 (RAB38) gene was identified as the disease causing mutation". A 2015 press release from the American Simmental Association (Anon., 2015) reported "Recently Dr. Beever has found the causative mutation and developed a diagnostic test for OH." It appears that the mutation arose originally in Angus cattle...

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