Phenotypes associated with this allele

• Allele Symbol: Ros1^tm1Cbm
• Allele Name: targeted mutation 1, Carmen Birchmeier
• Allele ID: MGI:2450566
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ros1^tm1Cbm/Ros1^tm1Cbm	involves: 129P2/OlaHsd	MGI:2664362
hm2	Ros1^tm1Cbm/Ros1^tm1Cbm	involves: 129P2/OlaHsd * C57BL/6	MGI:4365281

Genotype
MGI:2664362

hm1

• Allelic Composition: Ros1^tm1Cbm/Ros1^tm1Cbm
• Genetic Background: involves: 129P2/OlaHsd

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

reproductive system

reproductive system phenotype ( J:33259 )

♀N • in contrast to males, female homozygotes are fertile

impaired sperm migration in female genital tract ( J:33259 )

♂ • a reduced number of sperm cells is detected in the oviduct after mating females with mutant males, suggesting a sperm maturation defect

abnormal epididymis morphology ( J:33259 )

♂ • male homozygotes show a primary defect in epididymal regionalization and differentiation

abnormal caput epididymis morphology ( J:33259 )

♂ • tubules typically formed by tall columnar epithelial cells with long microvilli in the proximal part of the caput ("initial segment") are completely absent and replaced by tubules formed by low columar epithelial cells that resemble cells of the wild-type distal caput

♂ • in contrast, the corpus and cauda epididymis, vas deferens, seminal glands, and testis appear histologically normal

small caput epididymis ( J:33259 )

♂ • the mutant caput epididymis is reduced in size

abnormal epididymis epithelium morphology ( J:33259 )

♂ • regionalization and terminal differentiation of the proximal epididymal epithelium is severely disrupted

male infertility ( J:33259 )

♂ • male homozygotes appear healthy and show normal mating behavior but are sterile

impaired fertilization ( J:33259 )

• mutant sperm are produced at normal numbers but are completely unable to fertilize in vivo

• however, mutant sperm can fertilize eggs in vitro, and the fertilized eggs develop in vitro or in vivo with no obvious defects

cellular

impaired sperm migration in female genital tract ( J:33259 )

♂ • a reduced number of sperm cells is detected in the oviduct after mating females with mutant males, suggesting a sperm maturation defect

Genotype
MGI:4365281

hm2

• Allelic Composition: Ros1^tm1Cbm/Ros1^tm1Cbm
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

reproductive system

hairpin sperm flagellum ( J:63727 )

♂ • 1 hr postcoitum, 46-86% of mutant uterine sperm show angulation of the tail at the mid-/principal piece junction, bending into hairpin forms in the extreme, and often forming entangled sperm aggregates

♂ • when uterine contents are flushed out with medium H330 and allowed to disperse, twice as many motile mutant sperm are in hairpin form, although no difference is observed in % motility relative to wild-type controls most of which have straight flagella

♂ • at 1 hr postcoitum, hairpin forms are more predominant (80%) in motile than in immotile sperm

♂ • at 4 hr postcoitum, only 16% of mutant uterine sperm exhibit straight tails vs 70% in wild-type sperm

♂ • however, no significant differences in the osmotic pressure of uterine contents are observed at 1 hr or at 4 hrs postcoitum relative to wild-type controls, and mutant uterine sperm are still motile at 4 hrs (27.6 +/- 10.3%)

impaired sperm migration in female genital tract ( J:63727 )

♂ • mutant sperm fail to migrate into the oviduct as a result of tail angulations that form entangled sperm masses and impaired flagellar vigor within the uterus

♂ • sequential flushings of oviducts at 4 hrs after mating females with wild-type males contain sperm classified as free (591 +/- 119), loosely (371 +/- 70), and tightly (122 +/- 47) bound to the epithelium; in contrast, no mutant sperm are recovered from the oviduct or observed within the uterotubal junction

asthenozoospermia ( J:63727 )

♂ • 1 hr postcoitum, mutant uterine sperm flushed out and allowed to disperse in medium H330 show a 54% and 37% reduction in straight-line (VSL) and curvilinear velocities (VCL), respectively, relative to wild-type values

♂ • while the amplitude of lateral head displacement (ALH) is also reduced, the beat cross frequency and linearity of the swim path remain unaffected

male infertility ( J:63727 )

♂ • male homozygotes are infertile due to an inability of ejaculated sperm to leave the uterus and enter the oviduct

cellular

hairpin sperm flagellum ( J:63727 )

♂ • 1 hr postcoitum, 46-86% of mutant uterine sperm show angulation of the tail at the mid-/principal piece junction, bending into hairpin forms in the extreme, and often forming entangled sperm aggregates

♂ • when uterine contents are flushed out with medium H330 and allowed to disperse, twice as many motile mutant sperm are in hairpin form, although no difference is observed in % motility relative to wild-type controls most of which have straight flagella

♂ • at 1 hr postcoitum, hairpin forms are more predominant (80%) in motile than in immotile sperm

♂ • at 4 hr postcoitum, only 16% of mutant uterine sperm exhibit straight tails vs 70% in wild-type sperm

♂ • however, no significant differences in the osmotic pressure of uterine contents are observed at 1 hr or at 4 hrs postcoitum relative to wild-type controls, and mutant uterine sperm are still motile at 4 hrs (27.6 +/- 10.3%)

impaired sperm migration in female genital tract ( J:63727 )

♂ • mutant sperm fail to migrate into the oviduct as a result of tail angulations that form entangled sperm masses and impaired flagellar vigor within the uterus

♂ • sequential flushings of oviducts at 4 hrs after mating females with wild-type males contain sperm classified as free (591 +/- 119), loosely (371 +/- 70), and tightly (122 +/- 47) bound to the epithelium; in contrast, no mutant sperm are recovered from the oviduct or observed within the uterotubal junction

asthenozoospermia ( J:63727 )

♂ • 1 hr postcoitum, mutant uterine sperm flushed out and allowed to disperse in medium H330 show a 54% and 37% reduction in straight-line (VSL) and curvilinear velocities (VCL), respectively, relative to wild-type values

♂ • while the amplitude of lateral head displacement (ALH) is also reduced, the beat cross frequency and linearity of the swim path remain unaffected