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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ednrbtm1Ywa
targeted mutation 1, Masashi Yanagisawa
MGI:1857161
Summary 6 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ednrbtm1Ywa/Ednrbtm1Ywa B6;129-Ednrbtm1Ywa/J MGI:5617944
hm2
Ednrbtm1Ywa/Ednrbtm1Ywa involves: 129S5/SvEvBrd MGI:2174949
ht3
Ednrbtm1Ywa/Ednrb+ involves: 129S/SvEvBrd MGI:3717430
ht4
Ednrbtm1Ywa/Ednrbs involves: 129S/SvEv MGI:3717431
cx5
Ednratm1Ywa/Ednratm1Ywa
Ednrbtm1Ywa/Ednrbtm1Ywa
involves: 129S7/SvEvBrd MGI:3036213
cx6
Ednrbtm1Ywa/Ednrb+
Tg(Mt1-RET)304Ina/0
involves: 129S7/SvEvBrd * BALB/c * C57BL/6 MGI:5303093


Genotype
MGI:5617944
hm1
Allelic
Composition
Ednrbtm1Ywa/Ednrbtm1Ywa
Genetic
Background
B6;129-Ednrbtm1Ywa/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ednrbtm1Ywa mutation (4 available); any Ednrb mutation (90 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Colon crypt proliferation in Ednrbtm1Ywa/Ednrbtm1Ywa mice

cellular
• goblet cell number and size are increased in the distal (aganglionic) colon at P18
• goblet cell number and size are decreased in the proximal colon at P18

digestive/alimentary system
• distal colon shows increased thickness of the mucosal layer
• total crypt length is increased distally in the colon at P7 and P18
• however, crypt length and proliferation in the proximal colon are not different from wild-type mice
• goblet cell number and size are increased in the distal (aganglionic) colon at P18
• goblet cell number and size are decreased in the proximal colon at P18
• distal colon shows increased thickness of the mucosal layer
• mice show expansion of the proliferative zone in the distal colon at P7 and P18
• mice show reduced stool water content
• transepithelial resistance is increased in the distal colon
• mice exhibit hindered transport of particles in intact mucus on colon epithelium indicating increased mucus viscosity in the distal colon and enhanced barrier properties
• however, chloride secretion from crypt enterocytes in the distal colon in response to stimulation with either carbachol or forskolin is similar to wild-type mice

endocrine/exocrine glands
• total crypt length is increased distally in the colon at P7 and P18
• however, crypt length and proliferation in the proximal colon are not different from wild-type mice
• goblet cell number and size are increased in the distal (aganglionic) colon at P18
• goblet cell number and size are decreased in the proximal colon at P18




Genotype
MGI:2174949
hm2
Allelic
Composition
Ednrbtm1Ywa/Ednrbtm1Ywa
Genetic
Background
involves: 129S5/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ednrbtm1Ywa mutation (4 available); any Ednrb mutation (90 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• all die prematurely with an average age at death of 25 days

growth/size/body
• although appearing normal at birth, all become increasingly sick and emaciated from week 2 to 4

digestive/alimentary system
• gross distention of the intestine
• myenteric ganglion neurons between the longitudinal muscle layer and the inner circular smooth muscle layer are completely absent in the spastic colon
• sometimes with perforations leading to peritonitis
• distal portion of the colon is narrow and spastic
• variable but spastic colon usually spans the entire sigmoid colon to the distal rectum (aganglionic megacolon region)

vision/eye
• choroid layer of the retina lacks melanin but the retinal pigment epithelium is normal

immune system
• inflammatory response to topical application of arachidonic acid is significantly reduced (by about 65%)
• pruritic response is normal

pigmentation
• absence of melanocytes in hair bulbs where the coat is white and normal numbers in pigmented areas
• extensive white spotting becomes apparent by day 3-4
• 90% of the coat is white
• absence of melanin in the coat hair where the hair is white
• extensive white spotting becomes apparent by day 3-4
• 90% of the skin is unpigmented
• choroid layer of the retina lacks melanin but the retinal pigment epithelium is normal

behavior/neurological
• algesic response to phenylbenzoquinone is absent

integument
• absence of melanocytes in hair bulbs where the coat is white and normal numbers in pigmented areas
• extensive white spotting becomes apparent by day 3-4
• 90% of the coat is white
• absence of melanin in the coat hair where the hair is white
• extensive white spotting becomes apparent by day 3-4
• 90% of the skin is unpigmented




Genotype
MGI:3717430
ht3
Allelic
Composition
Ednrbtm1Ywa/Ednrb+
Genetic
Background
involves: 129S/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ednrbtm1Ywa mutation (4 available); any Ednrb mutation (90 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• inflammatory response to topical application of arachidonic acid is reduced by 37 or 51%
• pruritic response is normal

behavior/neurological
• algesic response to phenylbenzoquinone is reduced by 80%




Genotype
MGI:3717431
ht4
Allelic
Composition
Ednrbtm1Ywa/Ednrbs
Genetic
Background
involves: 129S/SvEv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ednrbs mutation (19 available); any Ednrb mutation (90 available)
Ednrbtm1Ywa mutation (4 available); any Ednrb mutation (90 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system

homeostasis/metabolism
• 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
• increased partial CO2 pressure in the blood under conditions of hypercapnia relative to normal air pressure values
• decreased partial O2 pressure in the blood under conditions of hypoxia relative to normal air pressure values




Genotype
MGI:3036213
cx5
Allelic
Composition
Ednratm1Ywa/Ednratm1Ywa
Ednrbtm1Ywa/Ednrbtm1Ywa
Genetic
Background
involves: 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ednratm1Ywa mutation (2 available); any Ednra mutation (24 available)
Ednrbtm1Ywa mutation (4 available); any Ednrb mutation (90 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• these double mutants highly resemble Ece1tm1Reh

cardiovascular system
• the peripheral vessels are dilated
• along with dilation of the peripheral vasculature this is consistent with cardiac failure

homeostasis/metabolism
• along with dilation of the peripheral vasculature this is consistent with cardiac failure




Genotype
MGI:5303093
cx6
Allelic
Composition
Ednrbtm1Ywa/Ednrb+
Tg(Mt1-RET)304Ina/0
Genetic
Background
involves: 129S7/SvEvBrd * BALB/c * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ednrbtm1Ywa mutation (4 available); any Ednrb mutation (90 available)
Tg(Mt1-RET)304Ina mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• life span after tumor development is shorter than in single Tg(Mt1-RET)304Ina hemizygotes

neoplasm
• lung metastasis after tumor development is significantly higher than in Tg(Mt1-RET)304Ina hemizygotes
• melanomagenesis proceeds without a pre-existing benign lesion, indicating de novo melanoma development
• location and shape of tumors is similar to those in single Tg(Mt1-RET)304Ina hemizygotes
• 68.8% of tumors less than 500 mm3 in size are malignant and the rest (31.2%) are premalignant
• 80.8% tumors from mutants are malignant and the rest are premalignant

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
melanoma DOID:1909 J:155735





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
05/10/2022
MGI 6.19
The Jackson Laboratory