Phenotypes Associated with This Genotype

Genotype
MGI:8385104

• Allelic Composition: Tg(Rr418-Luc)Harry1Ward/Tg(Rr418-Luc)Harry1Ward
• Genetic Background: involves: C57BL/6J * CBA/Ca

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

mortality/aging

postnatal lethality ( J:104443 )

• mice survive to weaning but fail to thrive and mice are routinely culled within the first 2 weeks after birth to prevent suffering

digestive/alimentary system

abnormal intestinal mucosa thickness ( J:104443 )

• distal colon exhibits severe disorganization of the mucosa

abnormal intestinal smooth muscle morphology ( J:104443 )

• reduction in thickness of the muscle layers in the distal colon

abnormal colon morphology ( J:104443 )

• a constriction point of variable position is seen within the colon

megacolon ( J:104443 )

• abdominal swelling that is correlated with megacolon

intestinal obstruction ( J:104443 )

• passage of feces along the large intestine is impeded

growth/size/body

postnatal growth retardation ( J:104443 )

muscle

abnormal intestinal smooth muscle morphology ( J:104443 )

• reduction in thickness of the muscle layers in the distal colon

nervous system

abnormal enteric ganglia morphology ( J:104443 )

• myenteric ganglia are almost entirely absent in the colon

abnormal myenteric nerve plexus morphology ( J:104443 )

• the plexus of Auerbach is reduced to isolated patches

pigmentation

abnormal choroid melanocyte morphology ( J:104443 )

• melanized choroidal cells are absent in the eyes

• however, the retinal pigmented epithelium and other cell layers appear normal

vision/eye

abnormal choroid melanocyte morphology ( J:104443 )

• melanized choroidal cells are absent in the eyes

• however, the retinal pigmented epithelium and other cell layers appear normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Waardenburg syndrome type 4C		DOID:0110955	OMIM:613266	J:104443