Phenotypes associated with this allele

• Allele Symbol: Egln3^tm1Pjr
• Allele Name: targeted mutation 1, Peter J Ratcliffe
• Allele ID: MGI:3795244
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Egln3^tm1Pjr/Egln3^tm1Pjr	involves: 129S/SvEv * Swiss	MGI:3798394
cx2	Egln3^tm1Pjr/Egln3^tm1Pjr Hif1a^tm1Pec/Hif1a^+	involves: 129S/SvEv * Swiss	MGI:3798395
cx3	Egln3^tm1Pjr/Egln3^tm1Pjr Epas1^tm1Pec/Epas1^+	involves: 129S/SvEv * Swiss	MGI:3798396

Genotype
MGI:3798394

hm1

• Allelic Composition: Egln3^tm1Pjr/Egln3^tm1Pjr
• Genetic Background: involves: 129S/SvEv * Swiss

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

mortality/aging

decreased survivor rate ( J:136034 )

• small reduction in the number of live births (17% rather than the expected 25%) but survivors appear healthy and reach adulthood

nervous system

enlarged superior cervical ganglion ( J:136034 )

• appears larger and contains more neurons in newborns and at 3-6 months of age

abnormal innervation ( J:136034 )

• fewer tyrosine hydroxylase-positive fibers are present in the iris, submandibular gland, and pineal gland

abnormal nervous system development ( J:136034 )

• unlike in wild-type mice the number of neurons in the superior cervical ganglia remains mostly unchanged between birth and adulthood

• in newborns there is a modest reduction in the number of apoptotic cells in the superior cervical ganglia

abnormal neuron morphology ( J:136034 )

abnormal adrenal chromaffin cell morphology ( J:136034 )

• reduced chromaffin cell volume

abnormal axon morphology ( J:136034 )

• in culture with subsaturating levels of nerve growth factor neurite arbors of superior cervical ganglia neurons are larger and more branched

abnormal neuron physiology ( J:136034 )

• in culture at non-saturating concentrations of nerve growth factor survival of superior cervical ganglia, but not dorsal root ganglia or trigeminal ganglia, neurons is enhanced

• survival of cultured superior cervical ganglia neurons is also enhanced when cultured with neurotrophin 3 compared to cultured neurons from wild-type mice

decreased neuron apoptosis ( J:136034 )

• 30% reduction in the number of apoptotic or TUNEL positive cells in the SCG at birth

endocrine/exocrine glands

abnormal adrenal medulla morphology ( J:136034 )

• increase in the number of tyrosine hydroxylase-positive cells but a decrease in the overall organ volume

abnormal adrenal chromaffin cell morphology ( J:136034 )

• reduced chromaffin cell volume

abnormal adrenal gland secretion ( J:136034 )

• about a 50% decrease in basal secretion of catecholamines

• secretion in response to potassium-induced depolarization is also reduced

homeostasis/metabolism

decreased circulating adrenaline level ( J:136034 )

decreased circulating noradrenaline level ( J:136034 )

abnormal physiological response to xenobiotic ( J:136034 )

• maximal rise in blood pressure induced by exogenous phenylephrine is increased but reflex bradycardia is blunted

• dobutamine-induced increase in heart rate and contractility are enhanced

cardiovascular system

abnormal carotid body morphology ( J:136034 )

• increase in the number of tyrosine hydroxylase-positive cells and overall organ volume

decreased systemic arterial blood pressure ( J:136034 )

• modest but significant reduction in resting blood pressure measured under anesthesia or by radiotelemetry

• however, no significant difference in heart rate is detected

decreased systemic arterial systolic blood pressure ( J:136034 )

• in resting or active mice

• the difference in systolic blood pressure is enhanced in active mice compared to resting mice

vision/eye

abnormal pupil morphology ( J:136034 )

• pupil diameter is significantly reduced in dark-adapted eyes

• however, no difference in pupil size is seen in under normal lighting conditions

cellular

decreased neuron apoptosis ( J:136034 )

• 30% reduction in the number of apoptotic or TUNEL positive cells in the SCG at birth

Genotype
MGI:3798395

cx2

• Allelic Composition: Egln3^tm1Pjr/Egln3^tm1Pjr; Hif1a^tm1Pec/Hif1a⁺
• Genetic Background: involves: 129S/SvEv * Swiss

nervous system

abnormal superior cervical ganglion morphology ( J:136034 )

• the number of neurons is similar to that in mice homozygous for Egln3^tm1Pjr alone

abnormal neuron physiology ( J:136034 )

• the nerve growth factor dose-response survival curve of superior cervical ganglia neurons is not significantly different from that of neurons homozygous for Egln3^tm1Pjr alone

Genotype
MGI:3798396

cx3

• Allelic Composition: Egln3^tm1Pjr/Egln3^tm1Pjr; Epas1^tm1Pec/Epas1⁺
• Genetic Background: involves: 129S/SvEv * Swiss

nervous system

abnormal superior cervical ganglion morphology ( J:136034 )

• the number of neurons is decreased compared to mice homozygous for Egln3^tm1Pjr alone

abnormal neuron physiology ( J:136034 )

• the nerve growth factor dose-response survival curve of superior cervical ganglia neurons is shifted so that higher doses of nerve growth factor are required for survival compared to neurons from mice homozygous for Egln3^tm1Pjr alone