Col4a5-R471X

Nomenclature

C57BL/6Smoc-Col4a5em1(R471X)Smoc

Cat. NO.

NM-KI-200183

Strain State

Repository Live

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Gene Summary

Gene Symbol
Col4a5

Synonyms

-

NCBI ID

12830

MGI ID

88456

Ensembl ID

ENSMUSG00000031274

Pubmed

Col4a5

Human Ortholog

COL4A5

Model Description

These mice carry a R471X mutation of Col4a5 gene.
Research Application：Alport syndrome research

Disease Connection

X-Linked Alport Syndrome

Phenotype(s)

MGI:6479076

Reference(s)

Hashikami K, et al., Establishment of X-linked Alport syndrome model mice with a Col4a5 R471X mutation. Biochem Biophys Rep. 2019 Mar;17:81-86

Validation Data

image.png

Fig1. Col4a5 mRNA level was measured in Col4a5-R471X mice (n=3, male, 6 week-old) and the point mutation of Col4a5 has been verified by sequencing.

Abbr. HO, homozygous;  WT, wild type.

image.png

Fig2. The results of urine (A) and blood (B) biochemical indicators in Col4a5-R471X mice (n=2 male and 6 female). 

Abbr. WT, wild type.image.png

Fig3. The results of urine (A) and plasma (B) biochemical indicators in 21-weeks-old Col4a5-R471X mice (n=3/group).(Data from a cooperator) 

Abbr. WT, wild type.

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