Phenotypes Associated with This Genotype

Genotype
MGI:2174949

• Allelic Composition: Ednrb^tm1Ywa/Ednrb^tm1Ywa
• Genetic Background: involves: 129S5/SvEvBrd

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

premature death ( J:22206 )

• all die prematurely with an average age at death of 25 days

growth/size/body

cachexia ( J:22206 )

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

postnatal growth retardation ( J:22206 )

digestive/alimentary system

aganglionic megacolon ( J:22206 )

• 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

intestinal obstruction ( J:22206 )

• 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

abnormal choroid pigmentation ( J:22206 )

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

immune system

decreased acute inflammation ( J:103977 )

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

• pruritic response is normal

pigmentation

abnormal coat/hair pigmentation ( J:22206 )

abnormal hair follicle melanocyte morphology ( J:22206 )

• absence of melanocytes in hair bulbs where the coat is white and normal numbers in pigmented areas

white spotting ( J:22206 )

• 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

variable depigmentation ( J:22206 )

• extensive white spotting becomes apparent by day 3-4

• 90% of the skin is unpigmented

abnormal choroid pigmentation ( J:22206 )

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

behavior/neurological

hypoalgesia ( J:103977 )

• algesic response to phenylbenzoquinone is absent

integument

abnormal coat/hair pigmentation ( J:22206 )

abnormal hair follicle melanocyte morphology ( J:22206 )

• absence of melanocytes in hair bulbs where the coat is white and normal numbers in pigmented areas

white spotting ( J:22206 )

• 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

variable depigmentation ( J:22206 )

• extensive white spotting becomes apparent by day 3-4

• 90% of the skin is unpigmented

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Hirschsprung's disease		DOID:10487	OMIM:600156 OMIM:606874 OMIM:606875 OMIM:608462 OMIM:611644	J:93622
Waardenburg syndrome type 4A		DOID:0110953	OMIM:277580	J:93622