Phenotypes Associated with This Genotype

Genotype
MGI:5804451

• Allelic Composition: Ednrb^tm1.1Nrd/Ednrb^tm1.1Nrd
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

The Ednrb^tm1.1Nrd/Ednrb^tm1.1Nrd pups are smaller and have black spots due to a melanin pigmentation defect

mortality/aging

lethality at weaning, complete penetrance ( J:226561 )

• mice die at around weaning age (~21 days)

growth/size/body

decreased body size ( J:226561 )

• mice are significantly smaller than control littermates

cachexia ( J:226561 )

• mice grow progressively weaker than wild-type controls

pigmentation

abnormal coat/hair pigmentation ( J:226561 )

• P3 pups show black spots due to a melanin pigmentation defect

white spotting ( J:226561 )

• mice exhibit a white coat color with black patches as early as P3

digestive/alimentary system

megacolon ( J:226561 )

• mice exhibit megacolon due to abnormal dilation of the colon

integument

abnormal coat/hair pigmentation ( J:226561 )

• P3 pups show black spots due to a melanin pigmentation defect

white spotting ( J:226561 )

• mice exhibit a white coat color with black patches as early as P3

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:226561