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| Nomenclature |
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Symbol:
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Car4tm1Sly
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Name:
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carbonic anhydrase 4;
targeted mutation 1, William S Sly
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MGI ID: |
MGI:3611770 |
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Synonyms: |
CA IV KO, CAIVdl1Sws |
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Gene:
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Car4
Location:
Chr11:84771288-84779546 bp, + strand
Genetic Position: Chr11,
Syntenic
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Mutation origin |
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Germline Transmission:
| Earliest citation of germline transmission:
J:103742
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Parent Cell Line:
| Other (see notes) (ES Cell) |
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Strain of Origin:
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129S1/Sv-Oca2+ Tyr+ KitlSl-J/J
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Mutation description |
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Allele
Type: |
Targeted (knock-out) |
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Mutations: |
Insertion, Intragenic deletion |
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The self-excising tACE-CRE-neo cassette replaced exons 1b, 2, 3, and 9 amino acids of exon 4. This sequence encodes all three active site His residues in the 146 amino acids of the protein that immediately follow the signal sequence. The resulting frameshift produced an early termination in exon 4. Absence of transcript was confirmed by RT-PCR of mutant brain, heart, kidney and muscle. Western blot analyses of the same tissues did not detect protein. (J:103742) |
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Phenotype summary
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Phenotype Summary by Mammalian Phenotype terms
(show or
hide all annotated terms)
Genotypes are listed in the next section.
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Key:
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| hm |
homozygous |
ht |
heterozygous |
| cn |
conditional genotype |
cx |
complex: > 1 genome feature |
| tg |
involves transgenes |
ot |
other: hemizygous, indeterminate,... |
| N |
normal phenotype |
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expected model not found |
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Phenotypic data by genotype
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Phenotypic Data by Genotype
(show or
hide all phenotypic details)
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Notes |
ES cell line = W9.5s
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| References |
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Original: |
J:103742
Shah GN et al.,
"Carbonic anhydrase IV and XIV knockout mice: roles of the respective carbonic anhydrases in buffering the extracellular space in brain."
Proc Natl Acad Sci U S A 2005 Nov 15;102(46):16771-6
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All: |
5 reference(s)
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