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

A simple PCR-based genotyping method for M105I mutation of alpha-SNAP enhances the study of early pathological changes in hyh phenotype.

Molecular and cellular probes - 1 Dec 2009

Bátiz Luis Federico, Roales-Buján Ruth, Rodríguez-Pérez Luis M, Matas Isabel M, Páez Patricia, Roque María, Jiménez Antonio J, Ramos Cayo, Pérez-Fígares José Manuel

Abstract excerpt

alpha-SNAP is an essential component of the protein machinery responsible for membrane fusion events in different cell types. The hyh (hydrocephalus with hop gait) mouse carries a missense mutation in Napa gene that results in a point mutation (M105I) in alpha-SNAP protein. Homozygous animals for...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Blotting, Western

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Recessive

Share to Hydrocephalus

Share to Immunohistochemistry

Share to Mice, Inbred C3H

Share to Mice, Mutant Strains

Share to Mutation, Missense

Source

Identifiers

PMID: 19615440
DOI: 10.1016/j.mcp.2009.07.002

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-19615440-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A simple PCR-based genotyping method for M105I mutation of alpha-SNAP enhances the study of early pathological changes in hyh phenotype.PMID 19615440Read ↗

The gene for soluble N-ethylmaleimide sensitive factor attachment protein alpha is mutated in hydrocephaly with hop gait (hyh) mice.Semantic proximity Read ↗

The hyh mutation uncovers roles for alpha Snap in apical protein localization and control of neural cell fate.Semantic proximity Read ↗

Heterogeneous expression of hydrocephalic phenotype in the hyh mice carrying a point mutation in alpha-SNAP.Semantic proximity Read ↗

Hydrocephalus with hop gait (hyh): a new mutation on chromosome 7 in the mouse.Semantic proximity Read ↗

Molecular and biochemical characterization of Mottled-dappled, an embryonic lethal Menkes disease mouse model.Semantic proximity Read ↗

A pathogenic mutation in α-SNAP impairs membrane lipid binding by concealing a critical hydrophobic loop.Semantic proximity Read ↗

Ubap1 knock-in mice reproduced the phenotype of SPG80.Semantic proximity Read ↗

A novel genotyping method to determine copy number in a mouse line commonly used for inducible transgene expression in brain and spinal cordSemantic proximity Read ↗

Huntingtin-associated protein 1 interacts with Ahi1 to regulate cerebellar and brainstem development in miceSemantic proximity Read ↗

Altered distribution of ATG9A and accumulation of axonal aggregates in neurons from a mouse model of AP-4 deficiency syndrome.Semantic proximity Read ↗

Targeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease.Semantic proximity Read ↗

A dominant mutation in <i>Snap25</i> causes impaired vesicle trafficking, sensorimotor gating, and ataxia in the blind-drunk mouseSemantic proximity Read ↗

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