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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Egr2tm1Pch
targeted mutation 1, Patrick Charnay
MGI:1857507
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Egr2tm1Pch/Egr2tm1Pch involves: 129S2/SvPas MGI:5762544
hm2
Egr2tm1Pch/Egr2tm1Pch involves: 129S2/SvPas * C57BL/6 * DBA/2 MGI:2183218
ht3
Egr2tm1.1Jchn/Egr2tm1Pch involves: 129S2/SvPas * C57BL/6 * DBA/2 MGI:2651554
ht4
Egr2tm1Pch/Egr2tm3Pch involves: 129S2/SvPas * C57BL/6 * DBA/2 MGI:2183230


Genotype
MGI:5762544
hm1
Allelic
Composition
Egr2tm1Pch/Egr2tm1Pch
Genetic
Background
involves: 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Egr2tm1Pch mutation (1 available); any Egr2 mutation (33 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• the average number of mesenchymal cells is increased by 30% at E18.5 in aortic valves
• cell density is somewhat reduced at E18.5
• aortic valve leaflets are more thickened than the atrioventricular valve leaflets
• dysmorphic and aortic valve leaflets that are 1.8 times larger than controls
• however, no obvious anomalies are seen in atrioventricular valves
• pulmonary valve leaflets are more thickened than the atrioventricular valve leaflets




Genotype
MGI:2183218
hm2
Allelic
Composition
Egr2tm1Pch/Egr2tm1Pch
Genetic
Background
involves: 129S2/SvPas * C57BL/6 * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Egr2tm1Pch mutation (1 available); any Egr2 mutation (33 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• no lethality before E18.5 and mice are born at the expected ratio
• half usually die within the first 48 hours of life
• most are usually dead around the end of the 2nd week of life

growth/size/body
• body size at birth is 90% of controls by weight
• rapid weight loss after the middle of the 2nd week of life
• weight gain in the first two weeks of life is slowed
• by the middle of the 2nd week, body weight is 72% norma

behavior/neurological
• develop between 10 and 15 days of age (J:21073)

nervous system
• hindbrain segmentation is less obvious or non-existent at E8.5-E10.5
• length of the rhombencephalon between nerve IX and the trigeminal ganglion is reduced
• complete elimination of r3
• reduced development of r3
• probable elimination of r5
• reduced development of r5
• all motor neurons arising exclusively in r5 are lost
• r6 reduced at E9.5
• major components of myelin in Schwann cells associated with the sciatic nerve are reduced
• nucleus morphology is aberrant
• increased Schwann cell morphology but devoid of myelin
• facial/acoustic ganglia are almost fused with the trigeminal ganglion
• ganglia V, VII/VIII are juxtaposed but not fused
• nucleus for the abducens not detected
• abducens nerve not seen
• motor nucleus of the facial nerve is relatively normal but positioned slightly rostrally (J:16077)
• in close proximity to the trigeminal nerve (J:16077)
• motor roots exit brain separate from those of the trigeminal nerve but both enter the second branchial arch together (J:39350)
• distribution of facial neurons overlap in r6 with those of the glossopharyngeal nerve (J:39350)
• in close proximity to the vagus nerve (J:16077)
• distribution of facial neurons overlap in r6 with those of the glossopharyngeal nerve (J:39350)
• in close proximity to the facial nerve (J:16077)
• trigeminal nuclei are normal until E15.5 then dramatically reduced at E16.5 (J:39350)
• presence of trigeminal nucleus is inconsistent at E17.5 and almost completely eliminated by E18.5 (J:39350)
• motor roots exit brain separate from those of the facial nerve but both enter the second branchial arch together (J:39350)
• in close proximity to the glossopharyngeal nerve
• major components of myelin in Schwann cells associated with the sciatic nerve are reduced

skeleton
• about 24% shorter 2 weeks after birth
• bones very porous although bones of the skull are less affected
• lack of contact between growth plate and osteoblasts
• compressed hypertrophic growth plate
• reduced number and length of calcified trabeculae
• skeleton deficient in calcium

vision/eye

limbs/digits/tail

craniofacial

embryo
• hindbrain segmentation is less obvious or non-existent at E8.5-E10.5
• length of the rhombencephalon between nerve IX and the trigeminal ganglion is reduced
• complete elimination of r3
• reduced development of r3
• probable elimination of r5
• reduced development of r5
• all motor neurons arising exclusively in r5 are lost
• r6 reduced at E9.5




Genotype
MGI:2651554
ht3
Allelic
Composition
Egr2tm1.1Jchn/Egr2tm1Pch
Genetic
Background
involves: 129S2/SvPas * C57BL/6 * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Egr2tm1.1Jchn mutation (0 available); any Egr2 mutation (33 available)
Egr2tm1Pch mutation (1 available); any Egr2 mutation (33 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• abnormal migration of motor neuron somata out of the lateral motor column
• ablation of boundary cap (BC) cells, putatively due to the expression of diptheria toxin
• abnormal migration of motor neuron somata out of the lateral motor column

cellular
• abnormal migration of motor neuron somata out of the lateral motor column




Genotype
MGI:2183230
ht4
Allelic
Composition
Egr2tm1Pch/Egr2tm3Pch
Genetic
Background
involves: 129S2/SvPas * C57BL/6 * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Egr2tm1Pch mutation (1 available); any Egr2 mutation (33 available)
Egr2tm3Pch mutation (8 available); any Egr2 mutation (33 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• reduced size of r3
• normal r5

embryo
• reduced size of r3
• normal r5





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory