B6.129P2-Scn5atm1Abrie/Biat

Status

Available to order

EMMA IDEM:10620
Citation informationRRID:IMSR_EM:10620 

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International strain nameB6.129P2-Scn5atm1Abrie/Biat
Alternative nameKI-YN
Strain typeTargeted Mutant Strains : Point mutation
Allele/Transgene symbolScn5atm1Abrie
Gene/Transgene symbolScn5a

Information from provider

ProviderHugues Abriel
Provider affiliationDepartment of Clinical Research, University of Bern
Genetic informationCongenital long QT syndrome type 3 (LQT3) is characterized by delayed repolarization leading to sudden cardiac death, and is caused by gain-of-function mutations in SCN5A, the gene encoding the sodium channel Nav1.5. This channel can be regulated upon its ubiquitylation by the ubiquitin ligase Nedd4-2, which binds to the PY motif of Nav1.5. Investigation of the mechanisms underlying the phenotype of a LQT3 family with sudden cardiac death carrying a SCN5A mutation located in the PY motif (p. Y1981N) of Nav1.5. Intron 28-3'UTR of SCN5A; mutation of the tyrosine (TAT) 1981 was mutated in asparagine (AAT) and a EcoRV site was introduced within the 3'UTR.
Phenotypic informationHomozygous:
Significant increase of the Nav1.5 protein level in ventricular lysates of homozygous KI-YN mice.

Heterozygous:
Not significant increase of the Nav1.5 current in mouse ventricular lysates.
Breeding historyF1 mice were subsequently backcrossed onto the C57BL/6J background (?10 generations) and then intercrossed heterozygously. Every year at least one more step on C57BL/6J.
ReferencesNone available
Homozygous fertileyes
Homozygous viableyes
Homozygous matings requiredno
Immunocompromisedno

Information from EMMA

Archiving centreUniversity of Veterinary Medicine, Vienna, Austria
Animals used for archivinghomozygous C57BL/6J males

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

MGI phenotypes (gene matching)
  • abnormal cardiovascular system physiology / MGI
  • abnormal heart rate / MGI
  • irregular heartbeat / MGI
  • decreased embryo size / MGI
  • seizures / MGI
  • premature death / MGI
  • no abnormal phenotype detected / MGI
  • dilated heart left ventricle / MGI
  • dilated cardiomyopathy / MGI
  • abnormal cardiac muscle contractility / MGI
  • abnormal impulse conducting system conduction / MGI
  • cardiac fibrosis / MGI
  • prolonged QT interval / MGI
  • prolonged PR interval / MGI
  • shortened QT interval / MGI
  • abnormal trabecula carnea morphology / MGI
  • prolonged P wave / MGI
  • abnormal atrioventricular bundle conduction / MGI
  • abnormal myocardial fiber physiology / MGI
  • decreased myocardial fiber number / MGI
  • decreased cardiac muscle contractility / MGI
  • abnormal heart ventricle morphology / MGI
  • decreased heart rate / MGI
  • cardiovascular system phenotype / MGI
  • abnormal atrioventricular node conduction / MGI
  • abnormal sinoatrial node conduction / MGI
  • dilated heart ventricle / MGI
  • atrial fibrillation / MGI
  • ventricular tachycardia / MGI
  • increased sensitivity to induced morbidity/mortality / MGI
  • prolonged QRS complex duration / MGI
  • shortened QRS complex duration / MGI
  • abnormal T wave / MGI
  • abnormal heart electrocardiography waveform feature / MGI
  • shortened PR interval / MGI
  • atrioventricular block / MGI
  • sinus bradycardia / MGI
  • mortality/aging / MGI
  • postnatal lethality, incomplete penetrance / MGI
  • prenatal lethality, complete penetrance / MGI
  • embryonic lethality during organogenesis, complete penetrance / MGI
  • prolonged PQ interval / MGI
  • embryo tissue necrosis / MGI

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Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

  • Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740*
  • Rederivation of mice from frozen stock, delivery time available upon request . €3880*

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Practical information

Example health report
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Material Transfer Agreement (MTA)
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Legally binding conditions for the transfer

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