Strain Data Sheet

RBRC00763

Information1

Image
BRC No.RBRC00763
TypeSpontaneous Mutation
SpeciesMus musculus molossinus
Strain nameMSM.C-Ednrb<WS4>/StmRbrc
Former Common nameMouse model for Waardenburg syndrome type 4-Hirschsprung disease type 2, WS4
H-2 Haplotype
ES Cell line
Background strainMSM [Mus musculus molossinus]
Appearancewhite-bellied agouti [A<w>/A<w> B/B C/C WS4/+]
a few white spots, black eyes [A<w>/A<w> B/B C/C WS4/WS4]
Strain developmentDeveloped by Yoshibumi Matsushima, Saitama Cancer Center. Spontaneous mutation arose in BALB/c and MSM background. The mutant mice were backcrossed to MSM/Ms.
Strain descriptionA animal model for Waardenburg syndrome type 4. Waardenburg syndrome (WS) is a hereditary auditory-pigmentary syndrome with hearing impairment and pigment anomaly, and the WS type 4 is associated with Hirschsprung disease. WS4 mutant mice were spontaneously arose in a breeding colony with BALB/c and MSM mixed background. Homozygous mutant mice show piebald and deafness, and most of them die between 2 and 4 weeks after birth due to megacolon. The results of allelism tests indicated that WS4 is allelic with Ednrb mutant mice (piebald-lethal and JF1).
Colony maintenanceHeterozygote x Wild-type [MSM/Ms]
ReferencesMamm. Genome, 13, 30-35 (2002). 11773966

Health Report

Examination Date / Room / Racknull

Gene

Gene info
Gene symbolGene nameChr.Allele symbolAllele nameCommon namesPromoter
Ednrbendothelin receptor type B14Ednrb<WS4>Waardenburg syndrome 4

Information2

Donor DNA
Research applicationMouse Models for Human Disease
Specific Term and ConditionsNo specific terms and conditions. (The DEPOSITOR waives its own rights under any patents, intellectual property, or other proprietary rights with respect to the results to be obtained by use of the BIOLOGICAL RESOURCE.)
DepositorYoshibumi Matsushima (Saitama Cancer Center)
Strain Statusan icon for Frozen embryosFrozen embryos
an icon for Frozen spermFrozen sperm
Strain AvailabilityRecovered litters from cryopreserved embryos (2 to 4 months)
Cryopreserved sperm (within 1 month)
Additional Info.Necessary documents for ordering:
  1. Order form (Japanese / English)
  2. Category I MTA: MTA for distribution with RIKEN BRC (Japanese / English)

Genotyping protocol -PCR-

BRC mice in Publications

No Data