Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Dysfunctional CRPPA is responsible for recessively inherited Hereford hydrocephalus with muscular dystrophy and retinal dysplasia.

Veterinary pathology - 1 Mar 2026

Schroeder Renae L, Fuller Anna M, Reith Rachel R, Bedwell Patrick S, Ward Jack A, Sanders Stacy K, Lasrado Ninaad, Petersen Jessica L, Steffen David J

Abstract excerpt

Hydrocephalus was first reported in Hereford cattle over 65 years ago; although no cause was identified in prior reports, it was suspected to be genetic. Advancements in reproductive technology and genomics have allowed for a determinative investigation of recent cases. Clinical and genomic data from 2 natural cases were followed by in vitro mating of a mother-son pair, each of which previously produced affected...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cattle
Share to Cattle Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hydrocephalus

Share to Muscular Dystrophy, Animal

Share to Mutation

Share to Pedigree

Source

Identifiers

PMID: 41064951
DOI: 10.1177/03009858251382477

Genes

CRPPA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Dysfunctional CRPPA is responsible for recessively inherited Hereford hydrocephalus with muscular dystrophy and retinal dysplasia.PMID 41064951Read ↗

An inherited SLC25A12-related recessive form of congenital porencephaly in Limousin cattle.Semantic proximity Read ↗

Germline mutation within COL2A1 associated with lethal chondrodysplasia in a polled Holstein family.Semantic proximity Read ↗

A Novel GUSB Mutation in Brazilian Terriers with Severe Skeletal Abnormalities Defines the Disease as Mucopolysaccharidosis VIISemantic proximity Read ↗

Identification of small and large genomic candidate variants in bovine pulmonary hypoplasia and anasarca syndromeSemantic proximity Read ↗

Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes.Semantic proximity Read ↗

Rapid Discovery of De Novo Deleterious Mutations in Cattle Enhances the Value of Livestock as Model Species.Semantic proximity Read ↗

Lethal chondrodysplasia in a family of Holstein cattle is associated with a de novo splice site variant of COL2A1.Semantic proximity Read ↗

Integrin alpha 6 homozygous splice-site mutation causes a new form of junctional epidermolysis bullosa in Charolais cattle.Semantic proximity Read ↗

A novel nonsense mutation in the DMP1 gene identified by a genome-wide association study is responsible for inherited rickets in Corriedale sheep.Semantic proximity Read ↗

A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome.Semantic proximity Read ↗

A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses.Semantic proximity Read ↗

Osteogenesis imperfecta in a male holstein calf associated with a possible oligogenic origin.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.