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| Nomenclature |
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Symbol:
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Apbb1tm1Quhu
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Name:
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amyloid beta (A4) precursor protein-binding, family B, member 1;
targeted mutation 1, Qubai Hu
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MGI ID: |
MGI:3514266 |
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Synonyms: |
p97FE65- |
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Gene:
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Apbb1
Location:
Chr7:112707000-112729735 bp, - strand
Genetic Position: Chr7,
46.6 cM
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Mutation
origin |
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Germline Transmission:
| Earliest citation of germline transmission:
J:94887
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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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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A phosphoglycerate kinase (PGK) promoter-driven neomycin cassette replaced most of the exon 2 region. Northern and Western blot analysis as well as immunohistochemistry confirmed the absence of full-length (2.6 kB) transcription and 97kD translation products. However, the expression of a shorter 60kD isoform was retained in mutant mice, and this isoform appeared to be translated from an alternatively spliced trancript that did not contain exon 2. Western and GST pull-down analysis of brain lysates demonstrated that the expression of the 60kD isoform was increased 5-fold in mutant mice. (J:94887) |
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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 |
 |
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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| References |
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Original: |
J:94887
Wang B et al.,
"Isoform-specific knockout of FE65 leads to impaired learning and memory."
J Neurosci Res 2004 Jan 1;75(1):12-24
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All: |
3 reference(s)
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