Gene Summary for NIH-0787
Functional Category: signal transduction-ligand
Cell Location: extracellular
OST #:
Mouse Nucleotide Accession #: NM_013823
Human Nucleotide Accession #: NM_004795

The disrupted mouse gene is Kl (klotho), which is the ortholog of human KL.

Phenotypic Summary for NIH-0787
The mice for this project were analyzed early (at approximately 8 weeks of age) and did not undergo all tests because the homozygous mutant mice exhibited ill health. These mutants were small and sickly when compared with their wild-type littermates, exhibiting notably decreased mean total tissue mass, lean body mass, body weight, and body length. In addition, the mutants examined exhibited increased mean trabecular bone volume and thickness and decreased mean femoral midshaft cortical thickness. The majority of these mutants died between 9 and 10 weeks of age. Disruption of the target gene was confirmed by Southern hybridization analysis.

Mouse Gene Sequence Information
Nucleotide Reference: NM_013823 Mus musculus klotho (Kl), mRNA
Protein Reference: NP_038851 klotho [Mus musculus]
Entrez Gene: 16591

Human Gene Sequence Information
Nucleotide Reference: NM_004795 Homo sapiens klotho (KL), mRNA
Protein Reference: NP_004786 klotho [Homo sapiens]
Entrez Gene: 9365

Mutation Information
Mutation Type: Homologous Recombination (standard)
Description: Coding exons 2 and 3 were targeted (NM_013823).

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