Gene Summary for NIH-1304 |
Functional Category: |
signal transduction-receptor |
Cell Location: |
membrane associated - extracellular |
OST #: |
188035 |
Mouse Nucleotide Accession #: |
NM_177708 |
Human Nucleotide Accession #: |
NM_178568 |
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Summary: |
The gene of interest is mouse Rtn4rl1 (reticulon 4 receptor-like 1), ortholog of human RTN4RL1. Aliases include NgR3, NGRH2, DKFZp547J144, and Ngrl2. |
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Phenotypic Summary for NIH-1304 |
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Microscopic analysis revealed a fatty change in the liver in both the male and female homozygous mutant mouse examined. A bile duct lesion was also noted in the female mutant, whereas enlarged cytoplasmic vacuoles and nuclei were noted in the centrilobular hepatocytes of the male mutant. RT-PCR analysis revealed that the transcript was absent in the homozygous mutant mice. |
Mouse Gene Sequence Information |
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Nucleotide Reference: |
NM_177708 ACCESSION:NM_177708 NID: gi 32129298 ref NM_177708.3 Mus musculus reticulon 4 receptor-like 1 (Rtn4rl1), mRNA |
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Protein Reference: |
Q8K0S5 ACCESSION:Q8K0S5 NID: Mus musculus (Mouse). Reticulon 4 receptor-like 1 (Mus musculus 15 days embryo male testis cDNA, RIKEN full-length enriched library, clone:8030486G21 product:hypothetical Leucine-rich repeat containing protein, full insert sequence) (Nogo receptor-like 2) (Nogo-66 receptor-related protein 3). MOUSESPTRNRDB |
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Entrez Gene: |
237847 |
Human Gene Sequence Information |
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Nucleotide Reference: |
NM_178568 ACCESSION:NM_178568 NID: gi 57242762 ref NM_178568.2 Homo sapiens reticulon 4 receptor-like 1 (RTN4RL1), mRNA |
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Protein Reference: |
Q86UN2 ACCESSION:Q86UN2 NID: Homo sapiens (Human). Nogo-66 receptor homolog-2 (Nogo-66 receptor-related protein 3) (Nogo receptor-like 2). HUMANSPTRNRDB |
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Entrez Gene: |
146760 |
Mutation Information |
Mutation Type: |
Retroviral Insertion (OST) |
Description: |
The gene consists of 2 exons, with the start codon located in exon 1 (NCBI accession BC030471). Retroviral insertion occurred in the intron between exons 1 and 2. |
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