Apela^tm1.2Brre
Targeted Allele Detail

Summary

• Symbol: Apela^tm1.2Brre
• Name: apelin receptor early endogenous ligand; targeted mutation 1.2, Bruno Reversade
• MGI ID: MGI:6118179
• Synonyms: Ela^delta
• Gene: Apela Location: Chr8:65481069-65489970 bp, - strand Genetic Position: Chr8, 32.52 cM
• Alliance: Apela^tm1.2Brre page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:244834
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A loxP site was inserted into intron 2 and an FRT site flanked neomycin resistance gene cassette and a second loxP site into intron 3. The neo cassette was removed through subsequent flp-mediated recombination. Exon 3 was deleted through subsequent cre-mediated recombination. Exon 3 codes for the mature peptide, so this creates a null allele. (J:244834)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
Loading...
hm1  Disease Model	Apela^tm1.2Brre/Apela^tm1.2Brre	B6(Cg)-Apela^tm1.2Brre
ht2	Apela^tm1.2Brre/Apela^+	B6(Cg)-Apela^tm1.2Brre

Phenotypes:

Affected Systems	hm1		ht2
show or hide all annotated terms Sex:
cardiovascular system	√	√
abnormal cardiovascular system morphology	√	√
abnormal glomerular capillary endothelium morphology	√
absent glomerular endothelium fenestra	√
glomerular capillary congestion	√
abnormal placental labyrinth vasculature morphology	√	√
abnormal vascular development	√	√
abnormal angiogenesis	√	√
abnormal dorsal aorta morphology	√	√
abnormal intersomitic artery morphology	√	√
absent vitelline blood vessels	√	√
absent cardiac outflow tract	√	√
abnormal heart tube morphology	√	√
pericardial edema	√	√
increased systemic arterial blood pressure	√
cellular	√	√	√
increased placenta apoptosis	√	√
maternal effect	√		√
embryo	√	√
embryo phenotype	N	N
absent vitelline blood vessels	√	√
increased placenta apoptosis	√	√
embryonic growth retardation	√	√
decreased embryo weight	√	√
abnormal placenta morphology	√	√
abnormal placental labyrinth vasculature morphology	√	√
thin placenta labyrinth	√	√
abnormal syncytiotrophoblast morphology	√	√
abnormal visceral yolk sac morphology	√	√
pale yolk sac	√	√
growth/size/body	√	√
embryonic growth retardation	√	√
decreased embryo weight	√	√
homeostasis/metabolism	√	√
pericardial edema	√	√
increased urine protein level	√
mortality/aging	√	√
lethality, incomplete penetrance	√	√
renal/urinary system	√
renal/urinary system phenotype	N
abnormal glomerular capillary endothelium morphology	√
absent glomerular endothelium fenestra	√
glomerular capillary congestion	√
increased urine protein level	√
renal glomerular protein deposits	√
reproductive system	√		√
abnormal litter size	√		√

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	hm1
pre-eclampsia IDs pre-eclampsia       DOID:10591 DOID:12684 ICD10CM:O14 MESH:D011225 NCI:C85021 OMIM:189800 OMIM:609402 OMIM:609403 OMIM:609404 OMIM:614592 ORDO:275555 UMLS_CUI:C0032914 Close	√

Expression

In Structures Affected by this Mutation:

12 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Apela Mutation: 18 strains or lines available

References

• Original: J:244834 Ho L, et al., ELABELA deficiency promotes preeclampsia and cardiovascular malformations in mice. Science. 2017 Aug 18;357(6352):707-713
• All: 2 reference(s)