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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ednrbs-l
piebald lethal
MGI:1856149
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ednrbs-l/Ednrbs-l involves: C3H/HeJ * C57BL/6 MGI:3589108
hm2
Ednrbs-l/Ednrbs-l involves: C57BL/6J * SSL/Le MGI:5638325


Genotype
MGI:3589108
hm1
Allelic
Composition
Ednrbs-l/Ednrbs-l
Genetic
Background
involves: C3H/HeJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ednrbs-l mutation (1 available); any Ednrb mutation (103 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• some live to breed but die between 3 and 15 months of age
• most usually die by 15 days of age but occasionally a mutant mouse may live to sexual maturity and breed

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

digestive/alimentary system
• 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
• distal four sections of the colon are aganglionic
• grossly evident via markedly distended colon in weaning age or older mice

nervous system
• randomly connected patches of normal and abnormal hair cells are seen in histological preparations
• deficiency of ganglion cells in the myenteric plexus of the lower colon
• complete lack of ganglion cells in the distal gut leads to megacolon

integument

hearing/vestibular/ear
• randomly connected patches of normal and abnormal hair cells are seen in histological preparations
• abnormally formed with nuclei at different levels
• 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




Genotype
MGI:5638325
hm2
Allelic
Composition
Ednrbs-l/Ednrbs-l
Genetic
Background
involves: C57BL/6J * SSL/Le
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ednrbs-l mutation (1 available); any Ednrb mutation (103 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• development of neural crest-derived melanocytes is disrupted

pigmentation
• development of neural crest-derived melanocytes is disrupted
• mutant mice are almost entirely white with pigmented hairs limited to small areas on the head, and base of the tail

integument





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
03/12/2024
MGI 6.23
The Jackson Laboratory