Gene Summary for NIH-0129
Functional Category: transporter
Cell Location: vesicle - secretory
OST #:
Mouse Nucleotide Accession #: NM_175210
Human Nucleotide Accession #: NM_173076

The gene of interest is mouse RIKEN cDNA 4833417A11 gene, ortholog of human ABCA12 (ATP-binding cassette, sub-family A [ABC1], member 12). Aliases include LOC74591, LI2, ICR2B, and DKFZp434G232.

Phenotypic Summary for NIH-0129
Genetic data indicate that this mutation resulted in lethality of the homozygous mutants. No notable phenotype was observed for the heterozygous mice. Disruption of the target gene was confirmed by Southern hybridization analysis.

Mouse Gene Sequence Information
Nucleotide Reference: NM_175210 Mus musculus RIKEN cDNA 4833417A11 gene (4833417A11Rik), mRNA
Protein Reference: Q8C137 ACCESSION:Q8C137 NID: Mus musculus (Mouse). 10 days neonate skin cDNA, RIKEN full-length enriched library, clone:4732483F10 product:similar to ATP-BINDING CASSETTE TRANSPORTER FAMILY A MEMBER 12. MOUSESPTRNRDB
Entrez Gene: 74591

Human Gene Sequence Information
Nucleotide Reference: NM_173076 ACCESSION:NM_173076 NID: gi 30795237 ref NM_173076.2 Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA
Protein Reference: Q86UK0 ACCESSION:Q86UK0 NID: Homo sapiens (Human). ATP-binding cassette sub-family A member 12 (ATP-binding cassette transporter 12) (ATP-binding cassette 12). HUMANSPTRNRDB
Entrez Gene: 26154

Mutation Information
Mutation Type: Homologous Recombination (standard)
Description: The segment of the gene represented by NCBI accession NM_175210.2 consists of 17 exons, with the start codon located in exon 1. Exon 8 was targeted.

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