Drc1^em3Mngx
Endonuclease-mediated Allele Detail

Summary

• Symbol: Drc1^em3Mngx
• Name: dynein regulatory complex subunit 1; endonuclease-mediated mutation 2, Mingxi Liu
• MGI ID: MGI:7294420
• Synonyms: Drc1^W244X
• Gene: Drc1 Location: Chr5:30486386-30524039 bp, + strand Genetic Position: Chr5, 16.42 cM
• Alliance: Drc1^em3Mngx page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Nucleotide substitutions
• Mutation details: This gene was targeted for single base substitution using a third generation base editor (BE3). This allele has a mutation of TGGG sequence to TAAA, resulting in a stop-gain at tryptophan 244 (p.W244*). 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)
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hm1	Drc1^em3Mngx/Drc1^em3Mngx	involves: C57BL/6
hm2	Drc1^em3Mngx/Drc1^em3Mngx	involves: C57BL/6 * ICR

Phenotypes:

Affected Systems	hm1	hm2
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
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)