Home - Australian Phenome Bank

Mouse Strain information

APB ID

9192

Added

01/06/2021

Last Edited

09/05/2022

Strain nomenclature:

C57BL/6- Wdr1tm1Wehi/ApbAnu

Nickname:

Wdr1rd/rd

Genetics

Strain Types

Mutant strain

Genetic Details

Chemically induced

Mode of Inheritance

Semi-dominant

1. Affected Gene Name: WD repeat domain 1

Chromosome	5
Affected Gene Symbol	Wdr1
Genetic alteration of gene:	The rd was mapped by a standard positional cloning approach to a candidate interval of 1.7 Mb on the proximal end of mouse chromosome 5. Sequencing the coding region and intron/exon boundaries of candidate genes revealed a mutation in the gene encoding the WD40 repeat protein Wdr1. The mutation in Wdr1 is a TA transversion in the second dinucleotide of the intron 9 splice donor. The effect of this mutation is to reduce normal splicing to 20% to 30% of that seen in wild-type cells, in favor of cryptic splicing from an upstream donor
Location on chromosome (bp):	38684149-38720265 bp
MGI Gene Accession ID Please also use this link to determine if other mutants have been registered with MGI (Mouse Genome Informatics)	MGI:1337100
Synonyms	Aip1, D5Wsu185e, rede
Allele Name	Wdr1tm1Wehi
Allele Symbol	Wdr1 rd/rd

Point mutation sequence:

Insertion/Tagging details:

Guide(s) RNA sequence:

Mutant Construction Technique

None

Phenotype

Phenotype Homozygous State

Homozygous mice begin to develop inflamed ears after ~100 days of age. The inflammation at the ears emerge in ‘pockets’ at the tip of the ears and as the mice age, the ears will have redness and oedema with immune infiltration. The inflammation at the tail would also emerge in pockets throughout the tail, though most prominently at the tip of the tail. As the mice age, the tail will become hardened and inflamed.

Phenotype Heterozygous State

unknown

Genetic Background Currently Maintained

C57BL/6 “The rd mutation was induced on an inbred C57BL/6 background, isolated on a mixed C57BL/6J: 129S6/SvEv:C3HeB/FeJ background,38 and back-crossed 10 generations to C57BL/6.” (Kile et al., 2007, Blood, PMID: 17515402)

Strain Images

Strain identification

Fertility and Strain maintenance

Fertility and Strain maintenance

Relevant bibliographic / database references

Strain Specific References

Other Related References

General information

Associated IP rights?

Unknown

Does it Model a Human Condition?

Unknown

Applicable Research Areas

Haematology
Bone
Cell biology

Keywords

platelets
neutrophils
Megakaryocyte

Is the strain available in any form to other researchers

Possibly

APB stock stored as:

Cryopreserved sperm (from 5 mice)

APB stock genotyped verified by:

Unverified

Are live mice available?

Unknown

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