Overview

Also Known As:piebald lethal

This inbred strain carries two segregating alleles of piebald, Ednrb^s and Ednrb^s-l (piebald lethal). Piebald mice are characterized by irregular white spotting.

Genetic overview

Genetic Background	Generation

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Research Applications

Dermatology Research
Developmental Biology Research
Neurobiology Research
Sensorineural Research
Mouse/Human Gene Homologs

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Important Note

This strain is homozygous for nonagouti and segregating for Ednrb^s-l and Ednrb^s.

Detailed Description

This inbred strain carries both the piebald (Ednrb^s) and piebald lethal (Ednrb^s-l) alleles. Homozygous piebald mice show irregular white spotting, the amount of which is greatly influenced by minor modifying genes. They also have dark eyes. Homozygous piebald lethal mice are almost completely white with dark eyes and only an occasional small pigmented spot on the head or rump. Piebald-piebald lethal heterozygotes (Ednrb^s/Ednrb^s-l) mice resemble piebald mice in the degree of spotting. The piebald mutations disrupt the development of melanocytes derived from the neural crest. All piebald lethal homozygotes develop megacolon with a lack of enteric ganglion cells in the posterior end of the colon. On the SSL/Le background, although many Ednrb^s-l homozygotes die between 2 and 4 weeks of age, significant numbers survive and may breed. The incidence of megacolon is reduced in piebald and piebald-piebald lethal heterozygotes and is affected by minor modifying genes.

Development

The piebald lethal mutation (Ednrb^s-l) arose spontaneously at The Jackson Laboratory in 1958 in a C3H/HeJ female showing a blaze and large belly spot. Piebald (Ednrb^s) is a very old mutation of the mouse fancy and came to The Jackson Laboratory from a Dr. Holman in 1955 in a multiple recessive stock called HO. The first piebald lethal female #133 was mated to a C57BL/6J male and the offspring were sibling mated. In 1962 a piebald lethal female at F10 was crossed to a WLHR/Le (Stock No. 000147) male at F16 and the new stock was balanced with Ednrb^s-l and hairless (Hr^hr) in repulsion. This stock was sibling mated, reaching F20 in 1968. In 1968 a piebald (a/a Endrb^s/Ednrb^s) female from a partially inbred line at F20 was mated to a Ednrb^s-l +/+ Hr^hr male at F20 and the piebald, piebald lethal (SSL) stock was started. This stock is homozygous for nonagouti (a/a) and segregating for piebald (Ednrb^s) and piebald lethal (Ednrb^s-l). It reached generation F47 in 1983 and F105 in 2005.

Control Suggestions

Ednrb^s/Ednrb^s or Ednrb^s-l/Ednrb^s
Ednrb^s-l/Ednrb^s-l or Ednrb^s-l/Ednrb^s

Additional Information

Considerations for Choosing Controls

Selected References

Lane PW. 1966. Association of megacolon with two recessive spotting genes in the mouse. J Hered 57(1):29-31PubMed: 5917257 MGI: J:5008

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Genetics

a

Allele Symbol: a

Allele Name	nonagouti
Allele Type	Spontaneous
Allele Synonym(s)
Gene Symbol and Name	a, nonagouti
Gene Synonym(s)
Strain of Origin	old mutant of the mouse fancy
Chromosome	2
General Note	Insertion of the LV30 retrotransposon without the beta4 retrovirus sequence does not cause the nonagouti phenotype. J:278039
Molecular Note	Characterization of this allele shows an insertion of DNA comprised of a 5.5kb virus-like element, VL30, into the first intron of the agouti gene. The VL30 element itself contains an additional 5.5 kb sequence, flanked by 526 bp of direct repeats (beta4 retroviral sequence). The host integration site is the same as for a^t-2Gso and A^w-38J and includes a duplication of four nucleotides of host DNA and a deletion of 2 bp from the end of each repeat. Northern analysis of mRNA from skin of homozygotes shows a smaller agouti message and levels 8 fold lower than found in wild-type.

Ednrb^s

Allele Symbol: Ednrb^s

Allele Name	piebald
Allele Type	Spontaneous
Allele Synonym(s)	pied spotting; s
Gene Symbol and Name	Ednrb, endothelin receptor type B
Gene Synonym(s)
Strain of Origin	old mutant of the mouse fancy
Chromosome	14
General Note	Also called piebald spotting. This is a very old mutation of the mouse fancy, and was described in the scientific literature as early as 1920 (J23183). Some piebalds in existing stocks may be of independent origin.
Molecular Note	This mutation is allelic to a targeted mutation for this gene. Homozygous mice produce approximately 25% of the normal levels of transcript from this allele. RT-PCR analysis demonstrated that no alterations in the coding sequence would result in any alteration of the amino acid sequence. A 5.5 kb retrotransposon-like element is found in intron 1. About 75% of the mRNA produced is an aberrant 6.5 kb form lacking exons 2-6 but containing exon 1. The remaining 25% of the mRNA formed is of normal, 4.4 kb, size.

Ednrb^s-l

Allele Symbol: Ednrb^s-l

Allele Name	piebald lethal
Allele Type	Spontaneous
Allele Synonym(s)	s^l
Gene Symbol and Name	Ednrb, endothelin receptor type B
Gene Synonym(s)
Strain of Origin	(C3H/HeJ x C57BL/6)F2
Chromosome	14
Molecular Note	Southern blotting revealed that all of the coding exons of the gene were deleted. In addition, the transcript was undetectable by northern blotting in homozygous mice.The deletion encompasses 97,637 base pairs of chromosome 14, beginning 15.72 kb upstream of Ednrb and continuing 54.98 kb downstream. According to the Ensembl genome database (m37), no other genes are located in the region that is deleted.

Disease/Phenotype

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

Hirschsprung's disease

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Genotype: Ednrb^s related

Dermatology Research
- Color and White Spotting Defects
Developmental Biology Research
- Neural Crest Defects
- Neurodevelopmental Defects
Neurobiology Research
- Neurodevelopmental Defects
- Receptor Defects
- Hearing Defects
Sensorineural Research
- Hearing Defects
Mouse/Human Gene Homologs
- Hirschsprung disease

Genotype: Ednrb^s-l related

Neurobiology Research
- Receptor Defects
- Hearing Defects
- Neurodevelopmental Defects
Sensorineural Research
- Hearing Defects
Mouse/Human Gene Homologs
- Hirschsprung disease
Dermatology Research
- Color and White Spotting Defects
Developmental Biology Research
- Neural Crest Defects
- Neurodevelopmental Defects

Mammalian Phenotype Terms by Genotype

The following phenotype information is associated with a similar, but not exact match to this JAX^® Mice strain

Genotype: Ednrb^s-l/Ednrb^s-l
involves: C3H/HeJ * C57BL/6

digestive/alimentary phenotype

abnormal hindgut morphology
- enteric ganglion cell migration is slower and does not keep up with elongation of the gut, subsequently leaving the end of the gut without innervation

megacolon
- distal four sections of the colon are aganglionic
- grossly evident via markedly distended colon in weaning age or older mice

integument phenotype

abnormal coat/hair pigmentation

mortality/aging

preweaning lethality, incomplete penetrance
- most usually die by 15 days of age but occasionally a mutant mouse may live to sexual maturity and breed

postnatal lethality
- some live to breed but die between 3 and 15 months of age

premature death

nervous system phenotype

abnormal cochlear hair cell morphology
- randomly connected patches of normal and abnormal hair cells are seen in histological preparations

absent enteric neurons
- complete lack of ganglion cells in the distal gut leads to megacolon

abnormal enteric nervous system morphology
- deficiency of ganglion cells in the myenteric plexus of the lower colon

pigmentation phenotype

abnormal coat/hair pigmentation

abnormal pigmentation pattern
- mice are white-coated with small patches of pigmented hair about the eyes,ears and tail

hearing/vestibular/ear phenotype

abnormal cochlear hair cell morphology
- randomly connected patches of normal and abnormal hair cells are seen in histological preparations

abnormal cochlear sensory epithelium morphology

abnormal inner ear morphology

abnormal stria vascularis morphology
- rare instances of cellular degeneration can be seen
- there is extreme variability in thickness

abnormal Deiters cell morphology
- abnormally formed with nuclei at different levels

Genotype: Ednrb^s-l/Ednrb^s-l
involves: C57BL/6J * SSL/Le

cellular phenotype

abnormal melanocyte proliferation
- development of neural crest-derived melanocytes is disrupted

integument phenotype

abnormal coat/hair pigmentation

pigmentation phenotype

abnormal melanocyte proliferation
- development of neural crest-derived melanocytes is disrupted

abnormal pigmentation pattern
- mutant mice are almost entirely white with pigmented hairs limited to small areas on the head, and base of the tail

abnormal coat/hair pigmentation

Genotype: Ednrb^s/Ednrb^s
Not Specified

digestive/alimentary phenotype

megacolon
- Background Sensitivity - as many as 10% of any litter of homozygotes may exhibit megacolon

limbs/digits/tail phenotype

abnormal tail pigmentation

pigmentation phenotype

abnormal tail pigmentation

variable body spotting
- Background Sensitivity - background modifiers determine extent
- Background Sensitivity - location and size of spots are variable depending on modifiers
- predictable locations for spotting include the feet, tail, head, tip of nose, umbilical area, lumbar region and shoulders
- Background Sensitivity - this genotype may result in an entirely or almost entirely unpigmented phenotype or a mouse with few white spots of variable size

abnormal foot pigmentation

variable depigmentation

white spotting
- Background Sensitivity - size of spots is variable depending on modifiers

integument phenotype

variable body spotting
- Background Sensitivity - this genotype may result in an entirely or almost entirely unpigmented phenotype or a mouse with few white spots of variable size
- predictable locations for spotting include the feet, tail, head, tip of nose, umbilical area, lumbar region and shoulders
- Background Sensitivity - background modifiers determine extent
- Background Sensitivity - location and size of spots are variable depending on modifiers

abnormal foot pigmentation

variable depigmentation

white spotting
- Background Sensitivity - size of spots is variable depending on modifiers

abnormal tail pigmentation

Phenotype Information

References

Lane PW. 1966. Association of megacolon with two recessive spotting genes in the mouse. J Hered 57(1):29-31PubMed: 5917257 MGI: J:5008

Additional References

Baynash AG; Hosoda K; Giaid A; Richardson JA; Emoto N; Hammer RE; Yanagisawa M. 1994. Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons. Cell 79(7):1277-85PubMed: 8001160 MGI: J:22207
Cantrell VA; Owens SE; Chandler RL; Airey DC; Bradley KM; Smith JR; Southard-Smith EM. 2004. Interactions between Sox10 and EdnrB modulate penetrance and severity of aganglionosis in the Sox10Dom mouse model of Hirschsprung disease. Hum Mol Genet 13(19):2289-301PubMed: 15294878 MGI: J:93622
Hosoda K; Hammer RE; Richardson JA; Baynash AG; Cheung JC; Giaid A; Yanagisawa M. 1994. Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice. Cell 79(7):1267-76PubMed: 8001159 MGI: J:22206

Additional - a related

Additional - Ednrb^s related

Additional - Ednrb^s-l related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Standard PCR:Ednrb
- Standard PCR:Ednrb~~-alternate1~~

Appearance

white with a few black spots
Related Genotype: Ednrb^s-l/Ednrb^s-l

black and white
Related Genotype: Ednrb^s-l/Ednrb^s

black with a few white spots
Related Genotype: Ednrb^s/Ednrb^s

Citation
When using the piebald lethal mouse strain in a publication, please include JAX stock #000308 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Pricing & Availability

Cryo Recovery

Domestic

International

Live Mouse

Age Genotype Price

weeks

Cryorecovery - Pricing

Service/Product Description Price

> > Homozygous for s, Compound Heterozygous for allele s and allele s<l>

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Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.

The Jackson Laboratory's Genotype Promise

The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.

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Phone: 207-288-6470

Email: TechTran@jax.org

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Also Known As:piebald lethal

Genetic overview

Research Applications

Base Price

Important Note

Detailed Description

Development

Control Suggestions

Additional Information

Selected References

a

Allele Symbol: a

Ednrbs

Allele Symbol: Ednrbs

Ednrbs-l

Allele Symbol: Ednrbs-l

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Genotype: Ednrbs related

Genotype: Ednrbs-l related

Mammalian Phenotype Terms by Genotype

Genotype: Ednrbs-l/Ednrbs-linvolves: C3H/HeJ * C57BL/6

digestive/alimentary phenotype

integument phenotype

mortality/aging

nervous system phenotype

pigmentation phenotype

hearing/vestibular/ear phenotype

Genotype: Ednrbs-l/Ednrbs-linvolves: C57BL/6J * SSL/Le

cellular phenotype

integument phenotype

pigmentation phenotype

Genotype: Ednrbs/EdnrbsNot Specified

digestive/alimentary phenotype

limbs/digits/tail phenotype

pigmentation phenotype

integument phenotype

Phenotype Information

References

Additional References

Additional - a related

Additional - Ednrbs related

Additional - Ednrbs-l related

Genotyping Protocols

Appearance

Citation

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Live Mouse

Cryorecovery - Pricing

Related Products and Services

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms Of Use

Licensing Information

Ednrb^s

Allele Symbol: Ednrb^s

Ednrb^s-l

Allele Symbol: Ednrb^s-l

Genotype: Ednrb^s related

Genotype: Ednrb^s-l related

Genotype: Ednrb^s-l/Ednrb^s-l
involves: C3H/HeJ * C57BL/6

Genotype: Ednrb^s-l/Ednrb^s-l
involves: C57BL/6J * SSL/Le

Genotype: Ednrb^s/Ednrb^s
Not Specified

Additional - Ednrb^s related

Additional - Ednrb^s-l related