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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ednrbtm1.1Nrd
targeted mutation 1.1, Noah Druckenbrod
MGI:5804183
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ednrbtm1.1Nrd/Ednrbtm1.1Nrd involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:5804451
ht2
Ednrbtm1.1Nrd/Ednrb+ involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:5804452


Genotype
MGI:5804451
hm1
Allelic
Composition
Ednrbtm1.1Nrd/Ednrbtm1.1Nrd
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ednrbtm1.1Nrd mutation (0 available); any Ednrb mutation (74 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

The Ednrbtm1.1Nrd/Ednrbtm1.1Nrd pups are smaller and have black spots due to a melanin pigmentation defect

mortality/aging
• mice die at around weaning age (~21 days)

growth/size/body
• mice are significantly smaller than control littermates
• mice grow progressively weaker than wild-type controls

pigmentation
• P3 pups show black spots due to a melanin pigmentation defect
• mice exhibit a white coat color with black patches as early as P3

digestive/alimentary system
• mice exhibit megacolon due to abnormal dilation of the colon

integument
• P3 pups show black spots due to a melanin pigmentation defect
• mice exhibit a white coat color with black patches as early as P3




Genotype
MGI:5804452
ht2
Allelic
Composition
Ednrbtm1.1Nrd/Ednrb+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ednrbtm1.1Nrd mutation (0 available); any Ednrb mutation (74 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Under severe hypoxia, the relative hypoxic area in the heart is lower in Ednrbtm1.1Nrd/Ednrb+ mice

homeostasis/metabolism
• under severe hypoxia (10% or 5% O2), heterozygotes maintain a steady (and thus higher) cardiac output relative to wild-type controls where cardiac output is decreased to about half of baseline levels
• heterozygotes exhibit a higher dP/dtmax/Ved value, indicating higher cardiac contractility, at baseline as well as under all hypoxia exposures (15%, 10% or 5% O2) relative to wild-type controls
• under severe hypoxia, blood is significantly less acidic than in wild-type controls
• below 15% O2 exposure, heterozygotes show only a mild (smaller) increase in blood lactate levels (1.8 +/- 0.75 mmol/L at 10%; 2.28 0.38 mmol/L at 5%) relative to wild-type controls (4.01 +/- 1.05 mmol/L at 10%; 4.92 +/- 0.33 mmol/L at 5%)
• at 5% O2 exposure, heterozygous blood lactate levels are less than half of those in wild-type controls
• however, no significant differences are noted at room air or 15% O2
• heterozygotes display a significantly lower partial CO2 pressure at room air (21% O2), but not under 15%, 10% or 5% hypoxia, relative to wild-type controls
• under 5% O2 exposure, heterozygotes show a significant decrease in the relative hypoxic area (%) in brain, heart, and kidney tissue relative to wild-type controls, as shown by pimonidazole staining; this difference is more significant in heart tissue
• however, no significant differences are seen in the intestine or liver

cardiovascular system
• in response to severe hypoxia (10% or 5% O2), heterozygotes show no significant change in cardiac output, unlike wild-type controls where cardiac output is reduced to about half of baseline levels
• however, no significant differences are observed at baseline or under mild hypoxia (21% or 15% O2) relative to wild-type controls
• heterozygotes exhibit a higher dP/dtmax/Ved (maximum rate of pressure change per ventricular end-diastolic volume) at baseline as well as under all subsequent hypoxia exposures (15%, 10% or 5% O2) relative to wild-type controls
• in response to 30 min of severe hypoxia (5% O2), all heterozygotes show tolerance to hypoxia-induced hypotension (defined as MAP <40 mmHg) displaying an average MAP 60.5 +/- 53 mmHg, whereas none of wild-type controls are able to maintain MAP >40 mmHg for the entire 30-min period
• under severe hypoxia (10% or 5% O2), heterozygotes maintain a steady (and thus higher) cardiac output relative to wild-type controls where cardiac output is decreased to about half of baseline levels
• heterozygotes exhibit a higher dP/dtmax/Ved value, indicating higher cardiac contractility, at baseline as well as under all hypoxia exposures (15%, 10% or 5% O2) relative to wild-type controls

muscle
• heterozygotes exhibit a higher dP/dtmax/Ved (maximum rate of pressure change per ventricular end-diastolic volume) at baseline as well as under all subsequent hypoxia exposures (15%, 10% or 5% O2) relative to wild-type controls





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last database update
06/05/2018
MGI 6.12
The Jackson Laboratory