Phenotypes Associated with This Genotype

Genotype
MGI:3589108

• Allelic Composition: Ednrb^s-l/Ednrb^s-l
• Genetic Background: involves: C3H/HeJ * C57BL/6

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

mortality/aging

premature death ( J:5008 )

postnatal lethality ( J:5008 )

• some live to breed but die between 3 and 15 months of age

preweaning lethality, incomplete penetrance ( J:5008 )

• most usually die by 15 days of age but occasionally a mutant mouse may live to sexual maturity and breed

pigmentation

abnormal coat/hair pigmentation ( J:5008 )

abnormal pigmentation pattern ( J:5008 )

• mice are white-coated with small patches of pigmented hair about the eyes,ears and tail

digestive/alimentary system

abnormal hindgut morphology ( J:5407 )

• enteric ganglion cell migration is slower and does not keep up with elongation of the gut, subsequently leaving the end of the gut without innervation

megacolon ( J:5008 )

• distal four sections of the colon are aganglionic

• grossly evident via markedly distended colon in weaning age or older mice

nervous system

abnormal cochlear hair cell morphology ( J:5048 )

• randomly connected patches of normal and abnormal hair cells are seen in histological preparations

abnormal enteric nervous system morphology ( J:5008 )

• deficiency of ganglion cells in the myenteric plexus of the lower colon

absent enteric neurons ( J:5008 )

• complete lack of ganglion cells in the distal gut leads to megacolon

integument

abnormal coat/hair pigmentation ( J:5008 )

hearing/vestibular/ear

abnormal inner ear morphology ( J:5048 )

abnormal cochlear sensory epithelium morphology ( J:5048 )

abnormal cochlear hair cell morphology ( J:5048 )

• randomly connected patches of normal and abnormal hair cells are seen in histological preparations

abnormal Deiters cell morphology ( J:5048 )

• abnormally formed with nuclei at different levels

abnormal stria vascularis morphology ( J:5048 )

• there is extreme variability in thickness

• rare instances of cellular degeneration can be seen

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:5008