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Drc1em2Mngx
Endonuclease-mediated Allele Detail
Summary
Symbol: Drc1em2Mngx
Name: dynein regulatory complex subunit 1; endonuclease-mediated mutation 2, Mingxi Liu
MGI ID: MGI:7294419
Synonyms: Drc1R554X
Gene: Drc1  Location: Chr5:30486386-30524039 bp, + strand  Genetic Position: Chr5, 16.42 cM
Alliance: Drc1em2Mngx page
Mutation
origin
Strain of Origin:  C57BL/6
Mutation
description
Allele Type:    Endonuclease-mediated (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsCRISPR/Cas9 technology generated a C to T change resulting in a stop-gain at arginine 554 (p.R554*). Western blot analysis confirmed the absence of protein expression in testis samples from homozygous mutant males. (J:322334)
Phenotypes
Key:
hm homozygous ht heterozygous tg involves transgenes phenotype observed
cn conditional genotype  cx complex: > 1 genome feature ot other: hemizygous, indeterminate,... N normal phenotype
Genotype/
Background:
Allelic Composition
Genetic Background
Cell Line(s)
involves: C57BL/6
 
involves: C57BL/6 * ICR
 
Phenotypes:
Affected Systems
show or hide all annotated terms Sex:
 
cellular
abnormal respiratory motile cilium morphology
abnormal sperm flagellum morphology
abnormal sperm axoneme morphology
abnormal sperm radial spoke morphology
thick sperm flagellum
absent sperm flagellum
coiled sperm flagellum
kinked sperm flagellum
short sperm flagellum
oligozoospermia
abnormal sperm head morphology
abnormal manchette morphology
immotile sperm
abnormal respiratory motile cilium physiology
growth/size/body
N N
growth/size/body region phenotype
N N
decreased body size
postnatal growth retardation
mortality/aging
decreased survivor rate
postnatal lethality, complete penetrance
postnatal lethality, incomplete penetrance
nervous system
hydrocephaly
reproductive system
abnormal sperm flagellum morphology
abnormal sperm axoneme morphology
abnormal sperm radial spoke morphology
thick sperm flagellum
absent sperm flagellum
coiled sperm flagellum
kinked sperm flagellum
short sperm flagellum
oligozoospermia
abnormal sperm head morphology
abnormal manchette morphology
immotile sperm
abnormal spermiogenesis
male infertility
respiratory system
abnormal respiratory motile cilium morphology
abnormal respiratory motile cilium physiology
View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 2 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Drc1 Mutation:  36 strains or lines available
References
Original:  J:322334 Zhang J, et al., Loss of DRC1 function leads to multiple morphological abnormalities of the sperm flagella and male infertility in human and mouse. Hum Mol Genet. 2021 Oct 13;30(21):1996-2011
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/17/2024
MGI 6.24
The Jackson Laboratory