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Phenotypes Associated with This Genotype
Genotype
MGI:2174949
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 (61 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 (J:22206)
• all die prematurely with an average age at death of 25 days (J:22206)

growth/size/body
• although appearing normal at birth, all become increasingly sick and emaciated from week 2 to 4 (J:22206)
• although appearing normal at birth, all become increasingly sick and emaciated from week 2 to 4 (J:22206)

digestive/alimentary system
• gross distention of the intestine (J:22206)
• myenteric ganglion neurons between the longitudinal muscle layer and the inner circular smooth muscle layer are completely absent in the spastic colon (J:22206)
• sometimes with perforations leading to peritonitis (J:22206)
• gross distention of the intestine (J:22206)
• myenteric ganglion neurons between the longitudinal muscle layer and the inner circular smooth muscle layer are completely absent in the spastic colon (J:22206)
• sometimes with perforations leading to peritonitis (J:22206)
• distal portion of the colon is narrow and spastic (J:22206)
• variable but spastic colon usually spans the entire sigmoid colon to the distal rectum (aganglionic megacolon region) (J:22206)
• distal portion of the colon is narrow and spastic (J:22206)
• variable but spastic colon usually spans the entire sigmoid colon to the distal rectum (aganglionic megacolon region) (J:22206)

vision/eye
• choroid layer of the retina lacks melanin but the retinal pigment epithelium is normal (J:22206)
• choroid layer of the retina lacks melanin but the retinal pigment epithelium is normal (J:22206)

immune system
• inflammatory response to topical application of arachidonic acid is significantly reduced (by about 65%) (J:103977)
• pruritic response is normal (J:103977)
• inflammatory response to topical application of arachidonic acid is significantly reduced (by about 65%) (J:103977)
• pruritic response is normal (J:103977)

pigmentation
• absence of melanocytes in hair bulbs where the coat is white and normal numbers in pigmented areas (J:22206)
• absence of melanocytes in hair bulbs where the coat is white and normal numbers in pigmented areas (J:22206)
• extensive white spotting becomes apparent by day 3-4 (J:22206)
• 90% of the coat is white (J:22206)
• absence of melanin in the coat hair where the hair is white (J:22206)
• extensive white spotting becomes apparent by day 3-4 (J:22206)
• 90% of the coat is white (J:22206)
• absence of melanin in the coat hair where the hair is white (J:22206)
• extensive white spotting becomes apparent by day 3-4 (J:22206)
• 90% of the skin is unpigmented (J:22206)
• extensive white spotting becomes apparent by day 3-4 (J:22206)
• 90% of the skin is unpigmented (J:22206)
• choroid layer of the retina lacks melanin but the retinal pigment epithelium is normal (J:22206)
• choroid layer of the retina lacks melanin but the retinal pigment epithelium is normal (J:22206)

behavior/neurological
• algesic response to phenylbenzoquinone is absent (J:103977)
• algesic response to phenylbenzoquinone is absent (J:103977)

integument
• algesic response to phenylbenzoquinone is absent (J:103977)
• algesic response to phenylbenzoquinone is absent (J:103977)
• absence of melanocytes in hair bulbs where the coat is white and normal numbers in pigmented areas (J:22206)
• absence of melanocytes in hair bulbs where the coat is white and normal numbers in pigmented areas (J:22206)
• extensive white spotting becomes apparent by day 3-4 (J:22206)
• 90% of the coat is white (J:22206)
• absence of melanin in the coat hair where the hair is white (J:22206)
• extensive white spotting becomes apparent by day 3-4 (J:22206)
• 90% of the coat is white (J:22206)
• absence of melanin in the coat hair where the hair is white (J:22206)
• extensive white spotting becomes apparent by day 3-4 (J:22206)
• 90% of the skin is unpigmented (J:22206)
• extensive white spotting becomes apparent by day 3-4 (J:22206)
• 90% of the skin is unpigmented (J:22206)


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory