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Acetm1Mcf
Targeted Allele Detail
Summary
Symbol: Acetm1Mcf
Name: angiotensin I converting enzyme; targeted mutation 1, Mark C Fishman
MGI ID: MGI:2155955
Gene: Ace  Location: Chr11:105858774-105880790 bp, + strand  Genetic Position: Chr11, 68.84 cM
Alliance: Acetm1Mcf page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:32114
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Not Specified
 
Mutation detailsThe authors mutated the gene to eliminate expression from the somatic promoter of the gene while preserving expression from the testicular promoter. Specific construct details were not available. Homozygous mutant mice lack the protein in all tissues except the testes. (J:32114)
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)
Not Specified
 
Phenotypes:
Affected Systems
show or hide all annotated terms
 
cardiovascular system
abnormal kidney vasculature morphology
growth/size/body
kidney medulla cyst
homeostasis/metabolism
increased blood urea nitrogen level
decreased urine osmolality
immune system
kidney inflammation
tubulointerstitial nephritis
mortality/aging
postnatal lethality, incomplete penetrance
renal/urinary system
abnormal kidney vasculature morphology
decreased urine osmolality
kidney inflammation
tubulointerstitial nephritis
abnormal kidney medullary ray morphology
dilated renal glomerular capsule
kidney cortex atrophy
abnormal kidney medulla morphology
kidney medulla cyst
abnormal kidney pelvis morphology
reproductive system
N
reproductive system phenotype
N
View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 9 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 Ace Mutation:  57 strains or lines available
Notes
The Acetm1Mcf mouse may serve as useful model system to study the progression of the nephronophthisis-uremic medullary cystic disease complex, a group of disorders that cause renal failure and are characterized by medullary cysts, corticotubular atrophy, interstitial inflammation, water wasting and uremia.
References
Original:  J:32114 Carpenter C, et al., Renal abnormalities in mutant mice [letter]. Nature. 1996 28;380(6572):292
All:  1 reference(s)

Contributing Projects:
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

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