Ednrb<s> Spontaneous Allele Detail MGI Mouse (MGI:1856148)

Ednrb^s
Spontaneous Allele Detail

Nomenclature

Symbol:	Ednrb^s
Name:	endothelin receptor type B; piebald
MGI ID:	MGI:1856148
Synonyms:	s
Gene:	Ednrb Location: Chr14:104213843-104242913 bp, - strand Genetic Position: Chr14, 51.0 cM

Ednrb^s/Ednrb^s

Show the 4 image(s) involving this allele.

Mutation
origin

Strain of Origin:

old mutant of the mouse fancy

Mutation
description

Allele Type:	Spontaneous
Mutation:	Transposon insertion
	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. (J:22206, J:56133, J:110573)
Inheritance:	Recessive

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)

Carrying this Mutation:	Mouse Strains: 16 strains available Cell Lines: 0 lines available
Carrying any Ednrb Mutation:	57 strains or lines available

Expression

In Mice Carrying this Mutation:

1 assay results

Phenotype
summary

Phenotype Summary by Mammalian Phenotype terms

(show or hide all annotated terms)

Genotypes are listed in the next section.

Key:

hm	homozygous	ht	heterozygous
cn	conditional genotype	cx	complex: > 1 genome feature
tg	involves transgenes	ot	other: hemizygous, indeterminate,...
N	normal phenotype		expected model not found

Affected Systems

Genotypes:

cardiovascular system

√

growth/size

√

homeostasis/metabolism

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pigmentation

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skin/coat/nails

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vision/eye

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Phenotypic
data by
genotype

Phenotypic Data by Genotype

(show or hide all phenotypic details)

Genotype	Allelic Composition	Genetic Background
ht1	Ednrb^s/Ednrb^s-13Pub	involves: 101/Rl * C3H/Rl
growth/size decreased body size (J:100221) described as small and runted pigmentation white spotting (J:100221) skin/coat/nails white spotting (J:100221)
Genotype	Allelic Composition	Genetic Background
ht2	Ednrb^s/Ednrb^s-17FrS	involves: 101/Rl * C3H/Rl
pigmentation white spotting (J:100221) skin/coat/nails white spotting (J:100221)
Genotype	Allelic Composition	Genetic Background
ht3	Ednrb^s/Ednrb^s-17Pub	involves: 101/Rl * C3H/Rl
growth/size decreased body size (J:100221) described as small and runted pigmentation white spotting (J:100221) skin/coat/nails white spotting (J:100221)
Genotype	Allelic Composition	Genetic Background
ht4	Ednrb^s/Ednrb^s-1Acrg	involves: 101/Rl * C3H/Rl
growth/size decreased body size (J:100221) described as small and runted pigmentation white spotting (J:100221) skin/coat/nails white spotting (J:100221)
Genotype	Allelic Composition	Genetic Background
ht5	Ednrb^s/Ednrb^s-1Chlc	involves: 101/Rl * C3H/Rl
pigmentation white spotting (J:100221) similar to Ednrb^s homozygotes skin/coat/nails white spotting (J:100221) similar to Ednrb^s homozygotes
Genotype	Allelic Composition	Genetic Background
ht6	Ednrb^s/Ednrb^s-1MLPf	involves: 101/Rl * C3H/Rl
growth/size decreased body size (J:100221) described as small and runted pigmentation white spotting (J:100221) skin/coat/nails white spotting (J:100221)
Genotype	Allelic Composition	Genetic Background
ht7	Ednrb^s/Ednrb^s-1Pu	involves: 101/Rl * C3H/Rl
growth/size decreased body size (J:100221) described as small and runted pigmentation white spotting (J:100221) skin/coat/nails white spotting (J:100221)
Genotype	Allelic Composition	Genetic Background
ht8	Ednrb^s/Ednrb^s-1XMLP	involves: 101/Rl * C3H/Rl
growth/size decreased body size (J:100221) described as small and runted pigmentation white spotting (J:100221) skin/coat/nails white spotting (J:100221)
Genotype	Allelic Composition	Genetic Background
ht9	Ednrb^s/Ednrb^s-1XMLPc	involves: 101/Rl * C3H/Rl
growth/size decreased body size (J:100221) described as small and runted pigmentation white spotting (J:100221) skin/coat/nails white spotting (J:100221)
Genotype	Allelic Composition	Genetic Background
ht10	Ednrb^s/Ednrb^s-24Pub	involves: 101/Rl * C3H/Rl
growth/size decreased body size (J:100221) described as small and runted pigmentation white spotting (J:100221) skin/coat/nails white spotting (J:100221)
Genotype	Allelic Composition	Genetic Background
ht11	Ednrb^s/Ednrb^s-27Pu	involves: 101/Rl * C3H/Rl
growth/size decreased body size (J:100221) described as small and runted pigmentation white spotting (J:100221) skin/coat/nails white spotting (J:100221)
Genotype	Allelic Composition	Genetic Background
ht12	Ednrb^s/Ednrb^s-27Pub	involves: 101/Rl * C3H/Rl
pigmentation white spotting (J:100221) skin/coat/nails white spotting (J:100221)
Genotype	Allelic Composition	Genetic Background
ht13	Ednrb^s/Ednrb^s-29Pub	involves: 101/Rl * C3H/Rl
growth/size decreased body size (J:100221) described as small and runted pigmentation white spotting (J:100221) skin/coat/nails white spotting (J:100221)
Genotype	Allelic Composition	Genetic Background
ht14	Ednrb^s/Ednrb^s-2CHLd	involves: 101/Rl * C3H/Rl
growth/size decreased body size (J:100221) described as small and runted pigmentation white spotting (J:100221) skin/coat/nails white spotting (J:100221)
Genotype	Allelic Composition	Genetic Background
ht15	Ednrb^s/Ednrb^s-2Etopc	involves: 101/Rl * C3H/Rl
growth/size decreased body size (J:100221) described as small and runted pigmentation white spotting (J:100221) skin/coat/nails white spotting (J:100221)
Genotype	Allelic Composition	Genetic Background
ht16	Ednrb^s/Ednrb^s-2MLPl	involves: 101/Rl * C3H/Rl
growth/size decreased body size (J:100221) described as small and runted pigmentation white spotting (J:100221) skin/coat/nails white spotting (J:100221)
Genotype	Allelic Composition	Genetic Background
ht17	Ednrb^s/Ednrb^s-12MNURn	involves: 101/Rl * C3H/Rl
pigmentation white spotting (J:100221) spotting appears similar to Ednrb^s homozygotes skin/coat/nails white spotting (J:100221) spotting appears similar to Ednrb^s homozygotes
Genotype	Allelic Composition	Genetic Background
ht18	Ednrb^s-15DttMb/Ednrb^s	involves: 101/Rl * C3H/Rl
pigmentation white spotting (J:100221) skin/coat/nails white spotting (J:100221) growth/size decreased body size (J:100221) described as small, runted
Genotype	Allelic Composition	Genetic Background
ht19	Ednrb^s/Ednrb^s-3CHLo	involves: 101/Rl * C3H/Rl
pigmentation white spotting (J:100221) similar to Ednrb^s homozygotes skin/coat/nails white spotting (J:100221) similar to Ednrb^s homozygotes
Genotype	Allelic Composition	Genetic Background
ht20	Ednrb^s/Ednrb^s-4Chlc	involves: 101/Rl * C3H/Rl
growth/size decreased body size (J:100221) described as small and runted pigmentation white spotting (J:100221) skin/coat/nails white spotting (J:100221)
Genotype	Allelic Composition	Genetic Background
ht21	Ednrb^s/Ednrb^s-4Pub	involves: 101/Rl * C3H/Rl
growth/size decreased body size (J:100221) described as small and runted pigmentation white spotting (J:100221) skin/coat/nails white spotting (J:100221)
Genotype	Allelic Composition	Genetic Background
ht22	Ednrb^s/Ednrb^s-36Pub	involves: 101/Rl * C3H/Rl
growth/size decreased body size (J:100221) described as small and runted pigmentation white spotting (J:100221) skin/coat/nails white spotting (J:100221)
Genotype	Allelic Composition	Genetic Background
ht23	Ednrb^s/Ednrb^s-31Pub	involves: 101/Rl * C3H/Rl
growth/size decreased body size (J:100221) described as small and runted pigmentation white spotting (J:100221) skin/coat/nails white spotting (J:100221)
Genotype	Allelic Composition	Genetic Background
ht24	Ednrb^s/Ednrb^s-3Etopf	involves: 101/Rl * C3H/Rl
growth/size decreased body size (J:100221) described as small and runted pigmentation white spotting (J:100221) skin/coat/nails white spotting (J:100221)
Genotype	Allelic Composition	Genetic Background
ht25	Ednrb^s/Ednrb^s-48UThc	involves: 101/Rl * C3H/Rl
growth/size decreased body size (J:100221) described as small and runted pigmentation white spotting (J:100221) skin/coat/nails white spotting (J:100221)
Genotype	Allelic Composition	Genetic Background
ht26	Ednrb^s/Ednrb^s-4Blec	involves: 101/Rl * C3H/Rl
growth/size decreased body size (J:100221) described as small and runted pigmentation white spotting (J:100221) skin/coat/nails white spotting (J:100221)
Genotype	Allelic Composition	Genetic Background
ht27	Ednrb^s/Ednrb^s-52Pub	involves: 101/Rl * C3H/Rl
growth/size decreased body size (J:100221) described as small and runted pigmentation white spotting (J:100221) skin/coat/nails white spotting (J:100221)
Genotype	Allelic Composition	Genetic Background
ht28	Ednrb^s/Ednrb^s-9ThW	involves: 101/Rl * C3H/Rl
growth/size decreased body size (J:100221) described as small and runted pigmentation white spotting (J:100221) skin/coat/nails white spotting (J:100221)
Genotype	Allelic Composition	Genetic Background
ht29	Ednrb^tm1Ywa/Ednrb^s	involves: 129S/SvEv
cardiovascular system increased mean arterial blood pressure (J:60070) homeostasis/metabolism abnormal blood gas (J:60070) increased partial CO2 pressure under conditions of hypercapnia relative to normal air pressure values decreased partial O2 pressure under conditions of hypoxia relative to normal air pressure values hypercapnia (J:60070) increased partial CO2 pressure in the blood under conditions of hypercapnia relative to normal air pressure values hypoxia (J:60070) decreased partial O2 pressure in the blood under conditions of hypoxia relative to normal air pressure values
Genotype	Allelic Composition	Genetic Background
cx30	Ednrb^s/Ednrb^s Lyst^bg-slt/Lyst^bg-slt	involves: C57BL/10Ch * Y257/Ch
pigmentation abnormal eye pigmentation (J:25388) eye color was ruby-red vision/eye abnormal eye pigmentation (J:25388) eye color was ruby-red
Genotype	Allelic Composition	Genetic Background
cx31	Ednrb^s/Ednrb^s Mc1r^e/Mc1r^e	Not Specified
pigmentation abnormal coat/hair pigmentation (J:5110) white spotting (J:5110) amount of white spotting decreased, although genetic background modifiers are not considered yellow coat color (J:5110) skin/coat/nails abnormal coat/hair pigmentation (J:5110) white spotting (J:5110) amount of white spotting decreased, although genetic background modifiers are not considered yellow coat color (J:5110)

Notes

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 associated with 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).

References

Original:	J:23183 Dunn LC, "Types of white spotting in mice" Am Naturalist 1920 Nov-Dec;54():465-95
All:	33 reference(s)

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