Phenotypes associated with this allele

• Allele Symbol: Dbh^tm1Rpa
• Allele Name: targeted mutation 1, Richard D Palmiter
• Allele ID: MGI:1857556
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Dbh^tm1Rpa/Dbh^tm1Rpa	either: (involves: 129S7/SvEvBrd * 129/SvCpj) or (involves: 129S7/SvEvBrd * C57BL/6J)	MGI:2175826
hm2	Dbh^tm1Rpa/Dbh^tm1Rpa	involves: 129S7/SvEvBrd * 129/SvCPJ * C57BL/6J	MGI:3579028
cx3	Adipoq^tm1Ish/Adipoq^tm1Ish Dbh^tm1Rpa/Dbh^+	involves: 129S7/SvEvBrd * C57BL/6J	MGI:5520075

Genotype
MGI:2175826

hm1

• 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

Genotype
MGI:3579028

hm2

• Allelic Composition: Dbh^tm1Rpa/Dbh^tm1Rpa
• Genetic Background: involves: 129S7/SvEvBrd * 129/SvCPJ * C57BL/6J

homeostasis/metabolism

increased circulating corticosterone level ( J:85772 )

• elevated basal corticosterone levels compared to controls although levels are equivalent after insulin treatment

abnormal glucose homeostasis ( J:85772 )

• normal response in a glucose tolerance test

decreased glucagon secretion ( J:85772 )

• blunted glucagon release in response to insulin induced hypoglycemia

decreased circulating glucose level ( J:85772 )

• 25% lower than controls

decreased circulating glucagon level ( J:85772 )

• blunted glucagon release in response to insulin induced hypoglycemia

increased circulating insulin level ( J:85772 )

• plasma concentrations increased 4 fold after 4 hours of fast and 6 fold after 12 hours of fast

• plasma insulin is increased at the 2 minute time point of a glucose tolerance test rather than at 30 minutes as in controls

• sympathetic stimulation and parasympathetic inhibition both normalize plasma insulin

insulin resistance ( J:85772 )

• blood glucose decreases less than in controls given the same insulin dose

endocrine/exocrine glands

decreased glucagon secretion ( J:85772 )

• blunted glucagon release in response to insulin induced hypoglycemia

behavior/neurological

abnormal food intake ( J:85772 )

• fail to increase food intake in response to high doses of insulin

Genotype
MGI:5520075

cx3

• Allelic Composition: Adipoq^tm1Ish/Adipoq^tm1Ish; Dbh^tm1Rpa/Dbh⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

skeleton

increased osteoblast cell number ( J:199264 )

• at 9 months

increased bone mass ( J:199264 )

• at 9 months

increased bone ossification ( J:199264 )

• increased bone formation at 9 months

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:199264 )

N • mice exhibit normal energy expenditure, glucose tolerance and glucose-stimulated insulin secretion

growth/size/body

growth/size/body region phenotype ( J:199264 )

N • mice exhibit normal body weight

adipose tissue

adipose tissue phenotype ( J:199264 )

N • mice exhibit normal fat pad weight