Npc1l1tm1Swa
Targeted Allele Detail
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|
| Symbol: |
Npc1l1tm1Swa |
| Name: |
NPC1 like intracellular cholesterol transporter 1; targeted mutation 1, Scott W Altmann |
| MGI ID: |
MGI:3043784 |
| Synonyms: |
NPC1L1(-) |
| Gene: |
Npc1l1 Location: Chr11:6161013-6180143 bp, - strand Genetic Position: Chr11, 3.93 cM
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| Alliance: |
Npc1l1tm1Swa page
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|
| Germline Transmission: |
Earliest citation of germline transmission:
J:89712
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| Parent Cell Line: |
Not Specified (ES Cell)
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| Strain of Origin: |
129P2/OlaHsd
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| Allele Type: |
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Targeted (Null/knockout, Reporter) |
| Mutations: |
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Insertion, Intragenic deletion
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| |
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Mutation details: A lacZ-neomycin selection cassette replaced a genomic fragment containing bases 790 to 998 of the coding sequence of the gene. RT-PCR analysis on mucosal scrapings of homozygous mice confirmed that no detectable transcript was expressed from this allele.
(J:89712)
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|
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| 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... | | | involves: 129P2/OlaHsd * C57BL/6 | |
|
| Phenotypes: |
| Affected Systems |
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digestive/alimentary system
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√
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decreased intestinal cholesterol absorption
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√
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homeostasis/metabolism
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√
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decreased intestinal cholesterol absorption
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√
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decreased liver cholesterol level
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√
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liver/biliary system
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√
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decreased liver cholesterol level
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√
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View phenotypes and curated references for all genotypes (concatenated display).
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| 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
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| Carrying any Npc1l1 Mutation: |
48 strains or lines available
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|
| Original: |
J:89712 Altmann SW, et al., Niemann-Pick C1 Like 1 protein is critical for intestinal cholesterol absorption. Science. 2004 Feb 20;303(5661):1201-4 |
| All: |
3 reference(s) |
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Analysis Tools
