Phenotypes associated with this allele

• Allele Symbol: Edn3^tmgc48
• Allele Name: Tennessee Mouse Genome Consortium 48
• Allele ID: MGI:3589247
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Edn3^tmgc48/Edn3^tmgc48	C57BL/6-19^PWK	MGI:3589405
ht2	Edn3^tmgc48/Edn3^+	C57BL/6-19^PWK	MGI:3802920

Genotype
MGI:3589405

hm1

• Allelic Composition: Edn3^tmgc48/Edn3^tmgc48
• Genetic Background: C57BL/6-19^PWK

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:137432 )

• failure to thrive

• usually die before weaning

behavior/neurological

abnormal social/conspecific interaction behavior ( J:92490 )

• after 3 repeated exposures to scents of the same donor male, females failed to habituate to the presentation of male odors

pigmentation

variable body spotting ( J:137432 )

• heritable white spotting phenotype

• severe white spotting over most of the body

• pigmentation remains only around pinnae, eyes, tail

integument

variable body spotting ( J:137432 )

• heritable white spotting phenotype

• severe white spotting over most of the body

• pigmentation remains only around pinnae, eyes, tail

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Waardenburg syndrome type 4B		DOID:0110954	OMIM:613265	J:137432

Genotype
MGI:3802920

ht2

• Allelic Composition: Edn3^tmgc48/Edn3⁺
• Genetic Background: C57BL/6-19^PWK

pigmentation

variable body spotting ( J:137432 )

• heritable white spotting phenotype

• variable white belly spotting

integument

variable body spotting ( J:137432 )

• heritable white spotting phenotype

• variable white belly spotting

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Waardenburg syndrome type 4B		DOID:0110954	OMIM:613265	J:137432