Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Acetm2Keb
Name:	angiotensin I converting enzyme; targeted mutation 2, Kenneth E Bernstein
MGI ID:	MGI:2155953
Synonyms:	ACE.2 KO
Gene:	Ace  Location: Chr11:105858774-105880790 bp, + strand  Genetic Position: Chr11, 68.84 cM
Alliance:	Acetm2Keb page

Germline Transmission:	Earliest citation of germline transmission: J:40475
Parent Cell Line:	R1 (ES Cell)
Strain of Origin:	(129X1/SvJ x 129S1/Sv)F1-Kitl+

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: Replacement of 91bp upstream of the testis specific transcription start site and the first 17bp of the testis specific first exon with a neomycin cassette. All of the somatic coding regions downstream of the neomycin cassette were inserted into intron 12. However, somatic isoforms expressed from this allele do not contain the C-terminal hydrophobic tail. Northern blot and RT-PCR analysis revealed that a cryptic splice site caused a 40bp insertion into the transcript and introduced an in frame stop codon. Western blot and activity assays demonstrated an absence of protein in tissues of homozygous mice. (J:40475)

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

In Structures Affected by this Mutation:

4 anatomical structure(s)

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:	54 strains or lines available

Original:	J:40475 Esther CR, et al., The critical role of tissue angiotensin-converting enzyme as revealed by gene targeting in mice. J Clin Invest. 1997 May 15;99(10):2375-85
All:	9 reference(s)