Mouse Genome Informatics
hm
    Ednrbtm1Ywa/Ednrbtm1Ywa
involves: 129S5/SvEvBrd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• all die prematurely with an average age at death of 25 days

growth/size
• 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
• algesic response to phenylbenzoquinone is absent
• 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

Mouse Models of Human Disease
OMIM IDRef(s)
Hirschsprung Disease, Susceptibility to, 2; HSCR2 600155 J:93622
Waardenburg Syndrome, Type 4A; WS4A 277580 J:93622