Phenotypes associated with this allele

• Allele Symbol: Th^tm1Srt
• Allele Name: targeted mutation 1, Suzanne Roffler-Tarlov
• Allele ID: MGI:1860480
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Th^tm1Srt/Th^tm1Srt	involves: 129S2/SvPas * C57BL/6J	MGI:3709060
cx2	Th^tm1Srt/Th^tm1Srt Tyr^c/Tyr^c	involves: 129S2/SvPas * C57BL/6J * ICR	MGI:3709277

Genotype
MGI:3709060

hm1

• Allelic Composition: Th^tm1Srt/Th^tm1Srt
• Genetic Background: involves: 129S2/SvPas * C57BL/6J

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

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:54692 )

• homozygotes begin to die at E9.5 and continue to do so throughout the midgestational period so that at E14.5, only 32% of embryos remain alive

• treatment of pregnant heterozygous females with L-Dopa, a catecholamine precursor compound, from E8.5 until birth, can rescue 90% of the expected homozygotes, while treatment with Dops rescues 42% of the expected mutants; rescued mutants survive for up to 3 weeks after birth without additional exogenous catecholamine precursors

growth/size/body

decreased body size ( J:54692 )

• mutants rescued with catecholamine precursor treatment appear to eat normally but are smaller after about P5

cardiovascular system

visceral vascular congestion ( J:54692 )

• 8 of 19 homozygotes have blood congestion in the heart and major blood vessels

• pools of blood are present in the liver and lungs of some mutants at E11.5, E12.5, and E13.5

heart vascular congestion ( J:54692 )

• 8 of 19 homozygotes have blood congestion in the heart and major blood vessels

abnormal heart development ( J:54692 )

• fail to develop a normal heart

abnormal heart atrium morphology ( J:54692 )

• 3 of 4 live mutants at E12.5 and E13.5 show thinning of the atrial wall

dilated heart atrium ( J:54692 )

• 3 of 4 live mutants at E12.5 and E13.5 show dilated atria

ventricular hypoplasia ( J:54692 )

• 3 of 4 live mutants at E12.5 and E13.5 show reduced cell density in the ventricles

homeostasis/metabolism

abnormal adrenaline level ( J:54692 )

• adrenal epinephrine levels are reduced

decreased dopamine level ( J:54692 )

• brain dopamine levels are reduced and are 8% of wild-type

abnormal noradrenaline level ( J:54692 )

• heart, skin, brain and adrenal norepinephrine levels are highly reduced

Genotype
MGI:3709277

cx2

• Allelic Composition: Th^tm1Srt/Th^tm1Srt; Tyr^c/Tyr^c
• Genetic Background: involves: 129S2/SvPas * C57BL/6J * ICR

mortality/aging

prenatal lethality, complete penetrance ( J:54692 )

• embryonic lethality, however time of lethality is not provided

• treatment of pregnant heterozygous females with L-Dopa, a catecholamine precursor compound, from E8.5 until birth, can rescue the embryonic lethality of homozygotes

homeostasis/metabolism

abnormal adrenaline level ( J:54692 )

• adrenal epinephrine levels are almost completely absent

decreased dopamine level ( J:54692 )

• brain dopamine levels are almost completely absent

abnormal noradrenaline level ( J:54692 )

• heart, skin, brain and adrenal norepinephrine levels are almost completely absent