RBRC00763, WS4

RBRC No. RBRC00763
Type Spontaneous Mutation
Species Mus musculus
Strain name WS4
Former Common name Mouse model for Waardenburg syndrome type 4-Hirschsprung disease type 2
H-2 Haplotype No Data
Donor strain BALB/c x MSM Mixed
Background strain MSM [Mus musculus molossinus]
Appearance
1 Appearance white-bellied agouti
Genotype A/A B/B C/C WS4/+
2 Appearance a few white spots, black eyes
Genotype A/A B/B C/C WS4/WS4
Strain development Developed by Yoshibumi Matsushima, Saitama Cancer Center. Spontaneous mutation arose in BALB/c and MSM background. The mutant mice were backcrossed to MSM/Ms.
Strain description A 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 maintenance Heterozygote x Wild-type [MSM/Ms]
Health Report
Gene Details
Promoter No Data
1 Symbol Ednrb
Symbol name endothelin receptor type B
Chromosome 14
Common name No Data
Symbol description No Data
References Mamm Genome. 2002 Jan;13(1):30-5.

A mouse model of Waardenburg syndrome type 4 with a new spontaneous mutation of the endothelin-B receptor gene.
Research applications Mouse Models for Human Disease
Specific Term and Conditions No 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.)
Additional information
1 No Data
2 Genotyping protocol <PCR>
Depositor Matsushima, Yoshibumi (Saitama Cancer Center) Matsushima, Yoshibumi
Strain Status /
Availability
(Expected delivery)


Frozen
Cryopreserved embryos : Within 1 month
Recovered litters from cryopreserved embryos : 2-4 months

Sperm
Cryopreserved sperm : Within 1 month
Recovered litters from cryopreserved sperm : 2-4 months