Phenotypes associated with this allele

• Allele Symbol: Drc1^em1Mngx
• Allele Name: endonuclease-mediated mutation 1, Mingxi Liu
• Allele ID: MGI:7294418
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Drc1^em1Mngx/Drc1^em1Mngx	involves: C57BL/6	MGI:7310215
hm2	Drc1^em1Mngx/Drc1^em1Mngx	involves: C57BL/6 * ICR	MGI:7310216

Genotype
MGI:7310215

hm1

• Allelic Composition: Drc1^em1Mngx/Drc1^em1Mngx
• 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

respiratory system

abnormal respiratory motile cilium physiology ( J:322334 )

• tracheal epithelial cells exhibit abnormal ciliary motility

cellular

abnormal respiratory motile cilium physiology ( J:322334 )

• tracheal epithelial cells exhibit abnormal ciliary motility

Genotype
MGI:7310216

hm2

• Allelic Composition: Drc1^em1Mngx/Drc1^em1Mngx
• Genetic Background: involves: C57BL/6 * ICR

mortality/aging

decreased survivor rate ( J:322334 )

• only 15.6% of mice are alive after puberty

postnatal lethality, incomplete penetrance ( J:322334 )

nervous system

hydrocephaly ( J:322334 )

• 27 of 32 prepubertal mice exhibit hydrocephaly

• however, mice that survive to adulthood show no hydrocephaly

reproductive system

absent sperm flagellum ( J:322334 )

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

short sperm flagellum ( J:322334 )

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

oligozoospermia ( J:322334 )

♂ • decreased sperm counts are observed in the cauda epididymis

cellular

absent sperm flagellum ( J:322334 )

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

short sperm flagellum ( J:322334 )

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

oligozoospermia ( J:322334 )

♂ • decreased sperm counts are observed in the cauda epididymis

growth/size/body

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

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