Phenotypes Associated with This Genotype

Genotype
MGI:2175826

• Allelic Composition: Dbh^tm1Rpa/Dbh^tm1Rpa
• Genetic Background: either: (involves: 129S7/SvEvBrd * 129/SvCpj) or (involves: 129S7/SvEvBrd * C57BL/6J)

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

mortality/aging

premature death ( J:24414 )

• of those that survive to term, 20% die between 3-5 weeks of age

neonatal lethality, incomplete penetrance ( J:24414 )

• of those that survive to term, 40% die within 48 hours of birth

embryonic lethality during organogenesis, incomplete penetrance ( J:24414 )

• onset E11.5, incompletely penetrant, some survive to birth and later; phenotype rescued when mothers treated with DOPS

growth/size/body

decreased body size ( J:24414 )

• runting apparent by P7

• by P21, weight about 50% of controls and eventually grow to 80% and 88% of male and female adult weight, respectively

postnatal growth retardation ( J:24414 )

• growth phase that occurs normally between 3 and 5 weeks is delayed by one to two weeks

vision/eye

blepharoptosis ( J:24414 )

cardiovascular system

abnormal heart morphology ( J:24414 )

• greater heterogeneity in cell size and cellular orientation in E12.5-E15.5 embryos

homeostasis/metabolism

absent circulating adrenaline ( J:24414 )

• in E11.5 embryos

increased circulating corticosterone level ( J:97566 )

absent circulating noradrenaline ( J:24414 )

• in E11.5 embryos

increased dopamine level ( J:24414 )

• in E11.5 embryos

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dopamine beta-hydroxylase deficiency		DOID:0090145	OMIM:223360	J:24414