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HOME
> 種原資料庫 >
RMRC13429
RMRC No.
RMRC13429
Order
Strain/Stock Designation
C57BL/6-
Phex
Hyp
/Narl
Status
SP
|
(Cryopreserved or freeze-dried sperm)
Availability
Level3
Pricing
Industry:23,680NTD Academia: 23,680NTD NSTC: 16,580NTD
Last Update Date
2025/6/2
Analysis Data
Description
Genes &
alleles
Phenotype
Health &
husbandry
References
Specific Term
and Conditions
Construct map
Species
:
laboratory mouse
Strain Type
:
COI (coisogenic strain),MSR (mutant strain)
Mutant Type
:
Other Names
:
Phex
Background Strain
:
C57BL/6
Strain Description
:
1.
A spontaneous mutant in the C57BL/6JNarl colony with shortened hindlimbs and tail was originally identified and has been maintained as a separate line since 2024. The rickets phenotype can be recognized from weaning, and the inheritance is apparently sex-linked, associated with the affected X chromosome in the pedigree.
2.
The mutation of this strain is mapped to exon 9 of the
Phex
gene on the X chromosome as a single nucleotide deletion. This
Phex
c.1074del (the 1074
th
nucleotide deletion from start codon)mutation causes a frameshift in protein-coding starting at the 359
th
amino acid and results in premature termination at the 365
th
amino acid, producing a truncated form of the Phex protein, which is originally composed of 749 amino acids.
3.
Lower phosphate concentration in serum, known as hypophosphatemia, can be observed in both heterozygous and homozygous females as well as hemizygous males. This also suggests a dominant trait of the mutation that causes X-linked hypophosphatemic rickets in mouse.
Depositor
:
National Center for Biomodels, National Institutes of Applied Research
/
財團法人國家實驗研究院國家生物模式中心
Email
:
Allele Symbol
:
Phex
Hyp
Allele Name
:
Allele Description
:
Strain of Origin
:
C57BL/6
Gene Symbol
:
Phex
Gene Name
:
Chromosome
:
Genotyping Method
:
Download
Genotyping NLAC
:
Research Application
:
Hematology
Cell and Developmental Biology
Metabolism
Endocrine
Construction Technologies
:
No
Animal Health Reports
:
Colony Maintenance
Breeding & Husbandry
:
Colony Maintenance
Mating System
:
hetero/hemi x wild type
References
:
No
Specific Terms of Use
:
有特別規定
本生物材料僅限使用於學術研究。寄存者對於分讓申請人使用本材料 所獲得之研究成果,不主張任何專利、智慧財產權及其他財產權
DEPOSITOR waives its own rights under any patents, intellectual property, or other proprietary rights with respect to the results to be obtained by use of BIOLOGICAL RESOURCE for academic research purpose.
分讓申請人公開發表使用本材料所獲得之論文或其他研究成果時,應揭露並致謝本材料係由
財團法人國家實驗研究院國家生物模式中心
所提供
Should the use of this material result in one or more scientific publication(s) the Recipient Investigator agrees to mention and acknowledge
NCB, NIAR
Construct Map
:
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