Cyp27b1<sup>em1Thka</sup> (cytochrome P450, family 27, subfamily b, polypeptide 1; CRISPR/Cas9 induced mutant 1, Thka) - Rat Genome Database

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Gene: Cyp27b1em1Thka (cytochrome P450, family 27, subfamily b, polypeptide 1; CRISPR/Cas9 induced mutant 1, Thka) Rattus norvegicus
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Symbol: Cyp27b1em1Thka
Name: cytochrome P450, family 27, subfamily b, polypeptide 1; CRISPR/Cas9 induced mutant 1, Thka
RGD ID: 124713545
Description: This mutation was created by injecting Jcl:Wistar embryo with CRISPR/Cas9 system to delete the cysteine at position 462 in exon 8, which is the 5th ligand of heme iron and an active center of Cyp27b1. The resulting mutation is a 25 amino acid deletion (75 bp deletion) in the target site.
ASSOCIATED WITH abnormal cartilage morphology; abnormal femur morphology; abnormal survival; ASSOCIATED WITH vitamin D-dependent rickets type 1A
Type: allele  of Cyp27b1  
Is Marker For: Strains:   W-Cyp27b1em1Thka  
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position: No map positions available.


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Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Generation of novel genetically modified rats to reveal the molecular mechanisms of vitamin D actions. Nishikawa M, etal., Sci Rep. 2020 Mar 30;10(1):5677. doi: 10.1038/s41598-020-62048-1.

Genomics


Related Rat Strains
The following Strains have been annotated to Cyp27b1em1Thka


Expression


Sequence

Nucleotide Sequences


Additional Information