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Strain Detail: FAM126A-L53P Tg

Strain information
Resource No. nbio257
Strain name FAM126A-L53P Tg
Strain Nomenclature
Common name/Synonyms
Strain types mutant
Background strain C57BL/6J Jms
Institution Department of Pharmacology and Laboratory Animal Resource Facility, National Research Institute for Child Health and Development
Developer Junji Yamauchi, Tomohiro Torii
Depositor Junji Yamauchi, Tomohiro Torii
Conditions of distribution

In publishing the research results obtained by use of the animal resource, a citation of the following literature (ref.1) and the stipulation of an acknowledgment to depositor designated by the depositor is requested. It's necessary to obtain depositor's consent on use of biological resources. Only for collaboration with the depositor : contact us

Animal Health Report
Strain description

The FAM126A-L53P Tg mice are trangenic mice expressing myelin-basic-protein-promoter-driven mutant FAM126A with a replacement of 53th amino acid residue from leucine to proline. The fam126a gene (also known as hyccin or drctnnb1a) is responsible for an autosomal recessive Pelizaeus-Merzbacher-like disease called Hypomyelinating leukodystrophies type 5 (HLD5). This strain is useful as a mouse model for HLD5.

References
  1. Miyamoto Y, Torii T, Eguchi T, Nakamura K, Tanoue A, Yamauchi J. Hypomyelinating leukodystrophy-associated missense mutant of FAM126A/hyccin/DRCTNNB1A aggregates in the endoplasmic reticulum. J Clin Neurosci. 2013, 21(6):1033-1039. [PMID: 24417797]
Resource information
Cryopreserved sperm In-house Genotype
Medium FERTIUP
From other institutions Genotype
Medium
Cryopreserved embryo In-house Mating System
Genotype
Medium EFS40
From other institutions Mating System
Genotype
Method
Strain status / Availability Cryopreserved sperm
Cryopreserved embryo Within 1 month
Live animals Approx. 2 months
Gene information
Mutation types transgenic
Gene symbol FAM126A
Gene name family with sequence similarity 126, member A
Genotyping information