Strain Name: |
SSL/LeJ |
|---|---|
Stock Number: |
000308 |
Availability: | Repository-Cryopreserved |
Price and Supply Information | |
General Terms and Conditions |
| Genes & Alleles | Ednrb; Ednrbs-l; Ednrbs; a; |
Product Information
Strain Details
Type Inbred Strain Additional information on Inbred Strains. Type Segregating Inbred Type JAX® GEMM® Strain - Spontaneous Mutation Additional information on JAX® GEMM® Strains. Species laboratory mouse Generation F73p Appearance
white with a few black spots
Related Genotype: Ednrbs-l/Ednrbs-l
black and white
Related Genotype: Ednrbs-l/Ednrbs
black with a few white spots
Related Genotype: Ednrbs/EdnrbsImportant Note
This strain is homozygous for nonagouti and segregating for Ednrbs-l and Ednrbs.Strain Description
This inbred strain carries both the piebald (Ednrbs) and piebald lethal (Ednrbs-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 (Ednrbs/Ednrbs-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 Ednrbs-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.Strain Development
The piebald lethal mutation (Ednrbs-l) arose spontaneously at The Jackson Laboratory in 1958 in a C3H/HeJ female showing a blaze and large belly spot. Piebald (Ednrbs) 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 Ednrbs-l and hairless (Hrhr) in repulsion. This stock was sibling mated, reaching F20 in 1968. In 1968 a piebald (a/a Endrbs/Ednrbs) female from a partially inbred line at F20 was mated to a Ednrbs-l +/+ Hrhr male at F20 and the piebald, piebald lethal (SSL) stock was started. This stock is homozygous for nonagouti (a/a) and segregating for piebald (Ednrbs) and piebald lethal (Ednrbs-l). It reached generation F47 in 1983 and F105 in 2005.
Gene & Allele Details
| Allele Symbol | Ednrbs-l | ||
|---|---|---|---|
| Allele Name | piebald lethal | ||
| Common Name(s) | sl; | ||
| Strain of Origin | (C3H/HeJ x C57BL/6)F2 | ||
| Gene Symbol and Name | Ednrb, endothelin receptor type B | ||
| Chromosome | 14 | ||
| Gene Common Name(s) | ABCDS; AU022549; ETB; ETBR; ETRB; Ednra; HSCR; HSCR2; Sox10m1; expressed sequence AU022549; piebald; s; | ||
| General Note | This mutation was found in the F2 generation of a cross between C3H/HeJ and C57BL/6J. Homozygotes are almost completely white with dark eyes and with only an occasional small pigmented spot on the head or rump. Ednrbs/Ednrbs-l mice resemble Ednrbs homozygotes in degree of spotting (J:5008). The piebald-lethal mutation acts prior to the onset of expression of the Dct locus (site of the mouse coat color mutation slaty) at 10.5 days post coitum, and disrupts development of melanocytes derived from the neural crest (J:19441). All Ednrbs-l homozygotes develop megacolon with lack of enteric ganglion cells in the posterior end of the colon. They usually die at about 2 weeks of age, but some may live a year or more and may breed (J:5008).Functional studies of the colon and rectum have shown that inhibitory cholinergic innervation is absent in these mice (J:7859, J:6666). Enteric ganglion cells in normal embryos enter the gut by way of the vagal outgrowth at 10 days of gestation and migrate down the gut. In homozygous piebald-lethal embryos migration is slower and does not keep up with elongation of the gut, so that although the neuroblasts migrate 6 to 7 days longer, they never reach the end of the gut (J:5407). In homozygous piebald-lethal mice the neural epithelium of the inner ear is abnormal, probably as a result of defects in the part of the acoustic ganglion derived from the neural crest (J:5048). | ||
| 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. [MGI Ref ID J:22206] | ||
| Allele Symbol | Ednrbs | ||
| Allele Name | piebald | ||
| Common Name(s) | s; | ||
| Strain of Origin | old mutant of the mouse fancy | ||
| Gene Symbol and Name | Ednrb, endothelin receptor type B | ||
| Chromosome | 14 | ||
| Gene Common Name(s) | ABCDS; AU022549; ETB; ETBR; ETRB; Ednra; HSCR; HSCR2; Sox10m1; expressed sequence AU022549; piebald; s; | ||
| 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. Homozygotes show irregular white spotting, the amount of which is greatly influenced by minor modifying genes (J:12952). Homozygotes have dark eyes. The white areas of the coat are completely lacking in melanocytes, and there is a reduction in the number of melanocytes in the choroid layer of the eye (J:15014, J:12970). There may also be defects in the structure of the iris, suggesting that pigment cells make some structural or inductive contribution to normal development (J:13123).Homozygotes may develop megacolon which is always associatedwith lack of ganglion cells in the distal portion of the colon. The incidence of megacolon is also affected by minor modifying genes (J:15014). Pigment cells and enteric ganglion cells of the colon are both derived from the neural crest, and Mayer (J:12725) has shown by explantation of embryonic tissues that the defect leading to white spotting is in the neural crest rather than in the skin. The defect probably consists of failure of pigment cells to differentiate in certain tissue environments rather than in failure to migrate (J:5036). The distribution of white areas in the skin and other organs is probably due to normal regional differences in these tissues in capacity to support pigmentation and not to regional heterogeneity among the pigment cells themselves (J:5220, J:5036, J:5060, J:5782).The piebald mutation was shown to be linked closely with Hr (J:299), later mapped to Chr 14 (J:52911). The localization has been refined in studies of induced mutations, using an intersubspecific backcross (J:16291). | ||
| 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. [MGI Ref ID J:110573] [MGI Ref ID J:22206] [MGI Ref ID J:56133] | ||
| Allele Symbol | a | ||
| Allele Name | nonagouti | ||
Control Information
| Control | ||
|---|---|---|
| Ednrbs-l/Ednrbs-l or Ednrbs-l/Ednrbs | ||
| Ednrbs/Ednrbs or Ednrbs-l/Ednrbs | ||
| Considerations for Choosing Controls | ||
| Control Pricing Information for JAX® GEMM® Strains | ||
Related Strains
Strains carrying Ednrbs allele
000577 B6 x STOCK a Oca2p Hps5ru2 Ednrbs/J 000674 I/LnJ 000676 LP/J 000275 V/LeJ View Strains carrying Ednrbs (4 strains)
003295 B6;129-Ednrbtm1Ywa/J 004711 STOCK Ednrbs-52Pub
Research Applications
This mouse can be used to support research in many areas including:Ednrbs-l related
Ednrbs relatedDermatology Research
Color and White Spotting Defects
Developmental Biology Research
Neural Crest Defects
Neurodevelopmental Defects
Mouse/Human Gene Homologs
Hirschsprung disease
Neurobiology Research
Neurodevelopmental Defects
Receptor Defects
Vestibular and Hearing Defects
Sensorineural Research
Vestibular and Hearing Defects
Dermatology Research
Color and White Spotting Defects
Developmental Biology Research
Neural Crest Defects
Neurodevelopmental Defects
Mouse/Human Gene Homologs
Hirschsprung disease
Neurobiology Research
Neurodevelopmental Defects
Receptor Defects
Vestibular and Hearing Defects
Sensorineural Research
Vestibular and Hearing Defects
References
Additional ReferencesPrice and Supply Information
| Strain Name: | SSL/LeJ |
| Stock Number: | 000308 |
Price Details
IMPORTANT NOTE: Prices are based on shipping destination. The shipping destinations are:
- USA, Canada and Mexico
- International
*Pricing for Shipping Destination selected:
International
| Price(s) in US dollars ($) | |||||
|---|---|---|---|---|---|
| Cryorecovery Fee | $2470.00 | ||||
Supply Details
| Standard Supply | Repository-Cryopreserved. Must Be Recovered. Please refer to the Supply Notes for further information. |
|---|---|
| Supply Notes |
Cryorecovery - Standard. The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two males and two females (two pairs) will be provided, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery. Cryorecovery to establish a Dedicated Supply for greater quantities of mice. |
| Licensing | See General Terms and Conditions below |
| Control Information | View Control Information in Strain Details. View Control Pricing Information for JAX® Strains. |
General Terms and Conditions
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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.Ordering and Purchasing Information
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