Phenotypes associated with this allele

• Allele Symbol: Drc1^em2Mngx
• Allele Name: endonuclease-mediated mutation 2, Mingxi Liu
• Allele ID: MGI:7294419
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Drc1^em2Mngx/Drc1^em2Mngx	involves: C57BL/6	MGI:7310219
hm2	Drc1^em2Mngx/Drc1^em2Mngx	involves: C57BL/6 * ICR	MGI:7310221

Genotype
MGI:7310219

hm1

• Allelic Composition: Drc1^em2Mngx/Drc1^em2Mngx
• Genetic Background: involves: C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

postnatal lethality, complete penetrance ( J:322334 )

• all mice exhibit prepuberal death, usually before P12

• Background Sensitivity: postnatal survival is significantly extended on a C57BL/6 x ICR genetic background

growth/size/body

decreased body size ( J:322334 )

• at P14, mice are significantly smaller than wild-type controls

postnatal growth retardation ( J:322334 )

• mice show obvious signs of growth retardation

nervous system

hydrocephaly ( J:322334 )

• all mice show obvious signs of hydrocephalus

Genotype
MGI:7310221

hm2

• Allelic Composition: Drc1^em2Mngx/Drc1^em2Mngx
• Genetic Background: involves: C57BL/6 * ICR

mortality/aging

decreased survivor rate ( J:322334 )

• 39.7% of mice are alive after puberty

postnatal lethality, incomplete penetrance ( J:322334 )

• postnatal survival is significantly extended on a mixed C57BL/6 x ICR genetic background

• Background Sensitivity: on a C57BL/6 background, all mice exhibit prepuberal death

nervous system

hydrocephaly ( J:322334 )

• 35 of 58 prepubertal mice exhibit hydrocephaly

• however, mice that survive to adulthood show no hydrocephaly

reproductive system

abnormal sperm flagellum morphology ( J:322334 )

♂ • nearly all cauda epididymal sperm show tail abnormalities including short, bent, curled, thick or absent flagella

♂ • in contrast, acrosome morphology is normal

abnormal sperm axoneme morphology ( J:322334 )

♂ • sperm show a disorganized axoneme with outer dense fibers separated by microtubules, and absence of a nexin-dynein regulatory complex (N-DRC), radial spokes and dynein arms

♂ • although axoneme assembly occurs normally in early-stage round spermatids, microtubule structures become increasingly disordered during spermatid differentiation such that a normal axoneme structure is no longer present

abnormal sperm radial spoke morphology ( J:322334 )

♂ • sperm show absence of radial spokes

thick sperm flagellum ( J:322334 )

♂

absent sperm flagellum ( J:322334 )

♂ • short or absent flagella are observed in the cauda epididymis

coiled sperm flagellum ( J:322334 )

♂ • curled sperm flagella are observed

kinked sperm flagellum ( J:322334 )

♂ • bent sperm flagella are observed

short sperm flagellum ( J:322334 )

♂ • sperm lacking flagella of normal length are detected within the lumen of seminiferous tubules

♂ • short or absent flagella are also observed in the cauda epididymis

oligozoospermia ( J:322334 )

♂ • decreased sperm counts are observed in the cauda epididymis

abnormal sperm head morphology ( J:322334 )

♂ • sperm head deformities are commonly observed

abnormal manchette morphology ( J:322334 )

♂ • elongating spermatids show a long and narrow manchette distribution around the nucleus leading to nuclear deformation and amorphous sperm heads

immotile sperm ( J:322334 )

♂ • sperm from the caput epididymis show complete absence of motility

abnormal spermiogenesis ( J:322334 )

♂ • although axoneme assembly occurs normally in early-stage round spermatids, microtubule structures become increasingly disordered during spermatid differentiation such that a normal axoneme structure is no longer present

♂ • elongating spermatids show a long and narrow manchette distribution around the nucleus leading to nuclear deformation and amorphous sperm heads

male infertility ( J:322334 )

♂ • when mated with wild-type female mice, adult males fail to sire any pups despite normal copulation

♂ • however, gross testis morphology and average testis weight/body weight ratio are normal

cellular

abnormal respiratory motile cilium morphology ( J:322334 )

• respiratory cilia are significantly shorter and lack nexin-dynein regulatory complex (N-DRC) structure formation

• however, unlike sperm flagella, respiratory cilia maintain normal 9 + 2 microtubule, radial spoke and dynein arm structural arrangements

• immunofluorescence staining confirmed the absence of DRC1, DRC2 and DRC4 in respiratory tract cilia whereas RSPH9 signal intensity is unchanged, suggesting that the radial spoke structure is normal

abnormal sperm flagellum morphology ( J:322334 )

♂ • nearly all cauda epididymal sperm show tail abnormalities including short, bent, curled, thick or absent flagella

♂ • in contrast, acrosome morphology is normal

abnormal sperm axoneme morphology ( J:322334 )

♂ • sperm show a disorganized axoneme with outer dense fibers separated by microtubules, and absence of a nexin-dynein regulatory complex (N-DRC), radial spokes and dynein arms

♂ • although axoneme assembly occurs normally in early-stage round spermatids, microtubule structures become increasingly disordered during spermatid differentiation such that a normal axoneme structure is no longer present

abnormal sperm radial spoke morphology ( J:322334 )

♂ • sperm show absence of radial spokes

thick sperm flagellum ( J:322334 )

♂

absent sperm flagellum ( J:322334 )

♂ • short or absent flagella are observed in the cauda epididymis

coiled sperm flagellum ( J:322334 )

♂ • curled sperm flagella are observed

kinked sperm flagellum ( J:322334 )

♂ • bent sperm flagella are observed

short sperm flagellum ( J:322334 )

♂ • sperm lacking flagella of normal length are detected within the lumen of seminiferous tubules

♂ • short or absent flagella are also observed in the cauda epididymis

oligozoospermia ( J:322334 )

♂ • decreased sperm counts are observed in the cauda epididymis

abnormal sperm head morphology ( J:322334 )

♂ • sperm head deformities are commonly observed

abnormal manchette morphology ( J:322334 )

♂ • elongating spermatids show a long and narrow manchette distribution around the nucleus leading to nuclear deformation and amorphous sperm heads

immotile sperm ( J:322334 )

♂ • sperm from the caput epididymis show complete absence of motility

abnormal respiratory motile cilium physiology ( J:322334 )

• tracheal epithelial cells lacking the N-DRC structure exhibit abnormal ciliary motility

respiratory system

abnormal respiratory motile cilium morphology ( J:322334 )

• respiratory cilia are significantly shorter and lack nexin-dynein regulatory complex (N-DRC) structure formation

• however, unlike sperm flagella, respiratory cilia maintain normal 9 + 2 microtubule, radial spoke and dynein arm structural arrangements

• immunofluorescence staining confirmed the absence of DRC1, DRC2 and DRC4 in respiratory tract cilia whereas RSPH9 signal intensity is unchanged, suggesting that the radial spoke structure is normal

abnormal respiratory motile cilium physiology ( J:322334 )

• tracheal epithelial cells lacking the N-DRC structure exhibit abnormal ciliary motility

growth/size/body

growth/size/body region phenotype ( J:322334 )

N • mice that survive to adulthood do not exhibit decreased body size