Phenotypes associated with this allele

• Allele Symbol: Tg(Ddx4-cre)1Ptch
• Allele Name: transgene insertion 1, Pao-Tien Chuang
• Allele ID: MGI:5566906
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Stk36^tm1Ptch/Stk36^tm1Ptch Tg(Ddx4-cre)1Ptch/0	involves: 129P2/OlaHsd	MGI:5577140
cn2	Bcas2^tm1.1Lil/Bcas2^tm1.1Lil Tg(Ddx4-cre)1Ptch/0	Not Specified	MGI:7278719

Genotype
MGI:5577140

cn1

• Allelic Composition: Stk36^tm1Ptch/Stk36^tm1Ptch; Tg(Ddx4-cre)1Ptch/0
• Genetic Background: involves: 129P2/OlaHsd

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

mortality/aging

mortality/aging ( J:208762 )

N • mice are viable and indistinguishable in general appearance from wild-type

reproductive system

reproductive system phenotype ( J:208762 )

♂N • mutant testes are of normal size, comparable morphology and sperm density with germ cells found in seminiferous tubules at all stages of testes development as well as Leydig and Sertoli cells; epididymides have similar morphology to controls

abnormal sperm flagellum morphology ( J:208762 )

♂

abnormal sperm axoneme morphology ( J:208762 )

♂ • central pair apparatus is intact, but periaxonemal structure is abnormal

abnormal sperm principal piece morphology ( J:208762 )

♂ • the fibrous sheath normally surrounding the axoneme is punctured and distorted with visible gaps in the principal piece

abnormal sperm fibrous sheath morphology ( J:208762 )

♂ • the fibrous sheath normally surrounding the axoneme is punctured and distorted

♂ • 8 + 3 positioning of longitudinal columns in flagella is present, but in more than 50% of principal piece analyzed, 1 or 2 extra columns are found at random positions; such additional columns are accompanied by emergence of a longitudinal column anchor between the extra one and its corresponding doublet

oligozoospermia ( J:208762 )

♂ • sperm count in the testes is slightly reduced by about 14%; in the cauda epididymis, sperm count is reduced by about 30%

abnormal sperm head morphology ( J:208762 )

♂ • almost all remaining sperm heads have a club-shaped morphology

♂ • sperm heads display a large gap between the acrosome and the nucleus

abnormal sperm nucleus morphology ( J:208762 )

♂ • nucleus shape is altered in spermatids (elongated and narrowed)

absent sperm head ( J:208762 )

♂ • more than 36% of sperm are decapitated

abnormal spermatid morphology ( J:208762 )

♂

abnormal manchette morphology ( J:208762 )

♂ • manchette develops pincer-like appearance

elongated manchette ( J:208762 )

♂ • in elongating spermatids, the manchette can be excessively elongated

decreased activated sperm motility ( J:208762 )

♂ • over 50% of capacitated spermatozoa show no mobility; about 23% display progressive movement while 26% are mobile, showing bending of the flagellum but inability to propagate the waveform along the flagellum

decreased sperm progressive motility ( J:208762 )

♂ • over 50% of capacitated spermatozoa show no mobility; about 23% display progressive movement while 26% are mobile, showing bending of the flagellum but inability to propagate the waveform along the flagellum

male infertility ( J:208762 )

♂ • when tested for fertility, it is observed that although vaginal plugs are found in females no offspring are produced from the matings

cellular

abnormal sperm flagellum morphology ( J:208762 )

♂

abnormal sperm axoneme morphology ( J:208762 )

♂ • central pair apparatus is intact, but periaxonemal structure is abnormal

abnormal sperm principal piece morphology ( J:208762 )

♂ • the fibrous sheath normally surrounding the axoneme is punctured and distorted with visible gaps in the principal piece

abnormal sperm fibrous sheath morphology ( J:208762 )

♂ • the fibrous sheath normally surrounding the axoneme is punctured and distorted

♂ • 8 + 3 positioning of longitudinal columns in flagella is present, but in more than 50% of principal piece analyzed, 1 or 2 extra columns are found at random positions; such additional columns are accompanied by emergence of a longitudinal column anchor between the extra one and its corresponding doublet

oligozoospermia ( J:208762 )

♂ • sperm count in the testes is slightly reduced by about 14%; in the cauda epididymis, sperm count is reduced by about 30%

abnormal sperm head morphology ( J:208762 )

♂ • almost all remaining sperm heads have a club-shaped morphology

♂ • sperm heads display a large gap between the acrosome and the nucleus

abnormal sperm nucleus morphology ( J:208762 )

♂ • nucleus shape is altered in spermatids (elongated and narrowed)

absent sperm head ( J:208762 )

♂ • more than 36% of sperm are decapitated

abnormal spermatid morphology ( J:208762 )

♂

abnormal manchette morphology ( J:208762 )

♂ • manchette develops pincer-like appearance

elongated manchette ( J:208762 )

♂ • in elongating spermatids, the manchette can be excessively elongated

decreased activated sperm motility ( J:208762 )

♂ • over 50% of capacitated spermatozoa show no mobility; about 23% display progressive movement while 26% are mobile, showing bending of the flagellum but inability to propagate the waveform along the flagellum

decreased sperm progressive motility ( J:208762 )

♂ • over 50% of capacitated spermatozoa show no mobility; about 23% display progressive movement while 26% are mobile, showing bending of the flagellum but inability to propagate the waveform along the flagellum

Genotype
MGI:7278719

cn2

• Allelic Composition: Bcas2^tm1.1Lil/Bcas2^tm1.1Lil; Tg(Ddx4-cre)1Ptch/0
• Genetic Background: Not Specified

reproductive system

abnormal oogenesis ( J:324155 )

♀ • aberrant alternative splicing (AS) events are detected in numerous oogenesis genes, such as Pabpc1l and Dazl

♀ • protein level of other PRP19 complex core components (CDC5L and PRP19) is severely reduced in GV oocytes as early as P5; however, their mRNA levels remain normal in oocytes from P10 females

abnormal oocyte morphology ( J:324155 )

♀ • meiosis II oocytes exhibit a large amount of dark cytoplasmic granules as well as disorganized and larger spindles than control oocytes

♀ • the diameter of germinal vesicle (GV) oocytes without zona pellucida is significantly smaller (72.4 um) than in control GV oocytes (85.8 um)

♀ • Nile red staining showed increased lipid droplet aggregation, esp. in the peripheral cytoplasm of GV oocytes

♀ • Mitotracker Red CMXROS staining showed absence of mitochondria around the nucleus and reduced fluorescence intensity in GV oocytes, suggesting poor oocyte quality

abnormal female meiosis ( J:324155 )

♀ • 94% of GV oocytes are found in the nonsurrounded nucleolus (NSN) stage, whereas 80% of control oocytes are in the surrounded nucleolus (SN) stage, suggesting defects in nucleus maturation

♀ • upon culture of GV oocytes, the rate of germinal vesicle breakdown is significantly lower (30%) than in control oocytes (90%)

increased primary ovarian follicle number ( J:324155 )

♀ • the number of primary follicles is normal at P10, P16 and P23 but significantly increased at 2 months of age

increased secondary ovarian follicle number ( J:324155 )

♀ • the number of secondary follicles is normal at P10, P16 and P23 but significantly increased at 2 months of age

decreased tertiary ovarian follicle number ( J:324155 )

♀ • the number of antral follicles is normal at P10 but significantly decreased at P16, at P23 and at 2 months of age

impaired ovarian folliculogenesis ( J:324155 )

♀ • follicular development is arrested: primary follicles and secondary follicles fail to develop into antral follicles

♀ • however, the number of primordial follicles and total number of all stages of follicles is relatively normal from P10 to 2 months of age, indicating that establishment and recruitment of the primordial follicle pool is largely unaffected

small ovary ( J:324155 )

♀ • ovaries begin to decrease in size at P16 and are obviously smaller than control ovaries after P23

decreased superovulation rate ( J:324155 )

♀ • following superovulation induction, the number of ovulated oocytes retrieved is less than 50% of that in control females

female infertility ( J:324155 )

♀ • female mice grow normally into adulthood but are infertile

impaired fertilization ( J:324155 )

♀ • when adult females are mated with normal fertile males, no 2-cell embryos are obtained from fallopian tubes on E1.5

cellular

abnormal oogenesis ( J:324155 )

♀ • aberrant alternative splicing (AS) events are detected in numerous oogenesis genes, such as Pabpc1l and Dazl

♀ • protein level of other PRP19 complex core components (CDC5L and PRP19) is severely reduced in GV oocytes as early as P5; however, their mRNA levels remain normal in oocytes from P10 females

abnormal oocyte morphology ( J:324155 )

♀ • meiosis II oocytes exhibit a large amount of dark cytoplasmic granules as well as disorganized and larger spindles than control oocytes

♀ • the diameter of germinal vesicle (GV) oocytes without zona pellucida is significantly smaller (72.4 um) than in control GV oocytes (85.8 um)

♀ • Nile red staining showed increased lipid droplet aggregation, esp. in the peripheral cytoplasm of GV oocytes

♀ • Mitotracker Red CMXROS staining showed absence of mitochondria around the nucleus and reduced fluorescence intensity in GV oocytes, suggesting poor oocyte quality

abnormal female meiosis ( J:324155 )

♀ • 94% of GV oocytes are found in the nonsurrounded nucleolus (NSN) stage, whereas 80% of control oocytes are in the surrounded nucleolus (SN) stage, suggesting defects in nucleus maturation

♀ • upon culture of GV oocytes, the rate of germinal vesicle breakdown is significantly lower (30%) than in control oocytes (90%)

endocrine/exocrine glands

increased primary ovarian follicle number ( J:324155 )

♀ • the number of primary follicles is normal at P10, P16 and P23 but significantly increased at 2 months of age

increased secondary ovarian follicle number ( J:324155 )

♀ • the number of secondary follicles is normal at P10, P16 and P23 but significantly increased at 2 months of age

decreased tertiary ovarian follicle number ( J:324155 )

♀ • the number of antral follicles is normal at P10 but significantly decreased at P16, at P23 and at 2 months of age

impaired ovarian folliculogenesis ( J:324155 )

♀ • follicular development is arrested: primary follicles and secondary follicles fail to develop into antral follicles

♀ • however, the number of primordial follicles and total number of all stages of follicles is relatively normal from P10 to 2 months of age, indicating that establishment and recruitment of the primordial follicle pool is largely unaffected

small ovary ( J:324155 )

♀ • ovaries begin to decrease in size at P16 and are obviously smaller than control ovaries after P23