Phenotypes associated with this allele

• Allele Symbol: Ube2b^tm1Jhjh
• Allele Name: targeted mutation 1, Jan H J Hoeijmakers
• Allele ID: MGI:2183933
• Summary: 9 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ube2b^tm1Jhjh/Ube2b^tm1Jhjh	either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * FVB/N)	MGI:2450873
hm2	Ube2b^tm1Jhjh/Ube2b^tm1Jhjh	involves: 129 * C57BL/6	MGI:6885771
hm3	Ube2b^tm1Jhjh/Ube2b^tm1Jhjh	involves: 129P2/OlaHsd	MGI:5295296
hm4	Ube2b^tm1Jhjh/Ube2b^tm1Jhjh	involves: 129P2/OlaHsd * FVB/NJ	MGI:2654457
cx5	Ube2a^tm1Agr/Ube2a^+ Ube2b^tm1Jhjh/Ube2b^tm1Jhjh	involves: 129P2/OlaHsd * FVB/N	MGI:3051848
cx6	Ube2a^tm1Agr/Y Ube2b^tm1Jhjh/Ube2b^+	involves: 129P2/OlaHsd * FVB/N	MGI:3051838
cx7	Ube2a^tm1Agr/Y Ube2b^tm1Jhjh/Ube2b^tm1Jhjh	involves: 129P2/OlaHsd * FVB/N	MGI:3051789
cx8	Ube2a^tm1Agr/Ube2a^tm1Agr Ube2b^tm1Jhjh/Ube2b^+	involves: 129P2/OlaHsd * FVB/N	MGI:3051849
cx9	Ube2a^tm1Agr/Ube2a^tm1Agr Ube2b^tm1Jhjh/Ube2b^tm1Jhjh	involves: 129P2/OlaHsd * FVB/N	MGI:3051847

Genotype
MGI:2450873

hm1

• Allelic Composition: Ube2b^tm1Jhjh/Ube2b^tm1Jhjh
• Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * FVB/N)

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

reproductive system

abnormal chiasmata formation ( J:81811 )

• increase in the number of chiasmata in diakinesis/metaphase I nuclei of spermatocytes indicating an increase in meiotic recombination

abnormal synaptonemal complex ( J:81811 )

♂ • synaptonemal complex structure is disturbed in pachytene and diplotene spermatocytes

♂ • during late pachytene, the synaptoneal complex is thinner and the average total length of the SC is increased compared to that in wild-type pachytene and early diplotene cells

increased male germ cell apoptosis ( J:81811 )

♂ • increased apoptosis of primary spermatocytes

abnormal spermatogenesis ( J:81811 )

♂ • spermatocyte development is impaired already during the fist wave of spermatogenesis

abnormal spermatocyte morphology ( J:81811 )

♂ • increased apoptosis of primary spermatocytes

♂ • synaptonemal complex structure and telomere localization are disturbed in pachytene and diplotene spermatocytes

♂ • during late pachytene, the synaptoneal complex is thinner and the average total length of the SC is increased compared to that in wild-type pachytene and early diplotene cells

abnormal male meiosis ( J:81811 )

♂ • increase in frequency of meiotic recombination during pachytene in spermatocytes as indicated by an increase in the number of MHL1 foci in pachytene spermatocytes and an increase in the number of chiasmata in diakinesis/metaphase I nuclei of spermatocytes

male infertility ( J:81811 )

♂

cellular

abnormal spermatocyte morphology ( J:81811 )

♂ • increased apoptosis of primary spermatocytes

♂ • synaptonemal complex structure and telomere localization are disturbed in pachytene and diplotene spermatocytes

♂ • during late pachytene, the synaptoneal complex is thinner and the average total length of the SC is increased compared to that in wild-type pachytene and early diplotene cells

abnormal telomere morphology ( J:81811 )

♂ • telomere localization is disturbed in pachytene and diplotene spermatocytes

abnormal chiasmata formation ( J:81811 )

• increase in the number of chiasmata in diakinesis/metaphase I nuclei of spermatocytes indicating an increase in meiotic recombination

abnormal male meiosis ( J:81811 )

♂ • increase in frequency of meiotic recombination during pachytene in spermatocytes as indicated by an increase in the number of MHL1 foci in pachytene spermatocytes and an increase in the number of chiasmata in diakinesis/metaphase I nuclei of spermatocytes

abnormal synaptonemal complex ( J:81811 )

♂ • synaptonemal complex structure is disturbed in pachytene and diplotene spermatocytes

♂ • during late pachytene, the synaptoneal complex is thinner and the average total length of the SC is increased compared to that in wild-type pachytene and early diplotene cells

increased male germ cell apoptosis ( J:81811 )

♂ • increased apoptosis of primary spermatocytes

Genotype
MGI:6885771

hm2

• Allelic Composition: Ube2b^tm1Jhjh/Ube2b^tm1Jhjh
• Genetic Background: involves: 129 * C57BL/6

reproductive system

abnormal sperm flagellum morphology ( J:83771 )

♂ • sperm flagella exhibit abnormal distribution of the periaxonemal structures

♂ • unidentified material aggregates in sperm flagella

abnormal outer dense fiber morphology ( J:83771 )

• mature spermatids exhibit an anomaly at the level of outer dense fiber (ODF) extension in the fibrous sheath

• an ODF of abnormal length is seen along doublet 8 or doublet 3, unlike in wild-type cells where shorter ODFs are typically associated with the axonemal doublets 3 and 8 and are not seen in transverse section when the longitudinal columns (LCs) are present

abnormal sperm fibrous sheath morphology ( J:83771 )

♂ • newly formed flagella have longitudinal columns (LCs) that are abnormally associated with axonemal doublets 8 and 2 or, less frequently, with axonemal doublets 3 and 2, unlike wild-type flagella where LCs are typically associated with the axonemal doublets 3 and 8

♂ • LC anomalies persist in flagella of elongated spermatids and are associated with outer dense fiber anomalies

♂ • closer LCs results in unilateral expansion or discontinuity of the fibrous sheath

abnormal spermatid morphology ( J:83771 )

♂ • during nuclear elongation, spermatids exhibit heterogeneous anomalies in the nucleus, acrosome and the microtubular manchette

♂ • cell organelles can be affected separately e.g. a normal manchette may associated with an expansion of the acrosome that covers part of the manchette

♂ • most spermatids exhibit a nucleus with invagination and/or evagination

♂ • irregular nuclear outline is present either in the posterior and/or in the anterior region

♂ • fully condensed spermatid nuclei show an irregular outline with anterior evagination and/or malformed posterior region

♂ • a large space is frequently observed between the nucleus and the acrosome

♂ • however, nuclear condensation appears normal and transition proteins 1 and 2, and protamine 1 and 2 are normally present in spermatid nuclei

abnormal manchette morphology ( J:83771 )

♂ • in some spermatids, membranous structures appearing like flat saccules are associated with the manchette

♂ • some spermatids show a normal manchette associated with a nucleus of an irregular outline

ectopic manchette ( J:83771 )

♂ • manchettes can be found ectopically in nuclear indentations

cellular

abnormal sperm flagellum morphology ( J:83771 )

♂ • sperm flagella exhibit abnormal distribution of the periaxonemal structures

♂ • unidentified material aggregates in sperm flagella

abnormal outer dense fiber morphology ( J:83771 )

• mature spermatids exhibit an anomaly at the level of outer dense fiber (ODF) extension in the fibrous sheath

• an ODF of abnormal length is seen along doublet 8 or doublet 3, unlike in wild-type cells where shorter ODFs are typically associated with the axonemal doublets 3 and 8 and are not seen in transverse section when the longitudinal columns (LCs) are present

abnormal sperm fibrous sheath morphology ( J:83771 )

♂ • newly formed flagella have longitudinal columns (LCs) that are abnormally associated with axonemal doublets 8 and 2 or, less frequently, with axonemal doublets 3 and 2, unlike wild-type flagella where LCs are typically associated with the axonemal doublets 3 and 8

♂ • LC anomalies persist in flagella of elongated spermatids and are associated with outer dense fiber anomalies

♂ • closer LCs results in unilateral expansion or discontinuity of the fibrous sheath

abnormal spermatid morphology ( J:83771 )

♂ • during nuclear elongation, spermatids exhibit heterogeneous anomalies in the nucleus, acrosome and the microtubular manchette

♂ • cell organelles can be affected separately e.g. a normal manchette may associated with an expansion of the acrosome that covers part of the manchette

♂ • most spermatids exhibit a nucleus with invagination and/or evagination

♂ • irregular nuclear outline is present either in the posterior and/or in the anterior region

♂ • fully condensed spermatid nuclei show an irregular outline with anterior evagination and/or malformed posterior region

♂ • a large space is frequently observed between the nucleus and the acrosome

♂ • however, nuclear condensation appears normal and transition proteins 1 and 2, and protamine 1 and 2 are normally present in spermatid nuclei

abnormal manchette morphology ( J:83771 )

♂ • in some spermatids, membranous structures appearing like flat saccules are associated with the manchette

♂ • some spermatids show a normal manchette associated with a nucleus of an irregular outline

ectopic manchette ( J:83771 )

♂ • manchettes can be found ectopically in nuclear indentations

Genotype
MGI:5295296

hm3

• Allelic Composition: Ube2b^tm1Jhjh/Ube2b^tm1Jhjh
• Genetic Background: involves: 129P2/OlaHsd

cellular

abnormal double-strand DNA break repair ( J:177475 )

• spermatocytes exhibit persistent double-strand DNA breaks in meiotic prophase unlike in wild-type cells

homeostasis/metabolism

abnormal double-strand DNA break repair ( J:177475 )

• spermatocytes exhibit persistent double-strand DNA breaks in meiotic prophase unlike in wild-type cells

Genotype
MGI:2654457

hm4

• Allelic Composition: Ube2b^tm1Jhjh/Ube2b^tm1Jhjh
• Genetic Background: involves: 129P2/OlaHsd * FVB/NJ

reproductive system

reproductive system phenotype ( J:35244 )

♀N • females are fertile

increased male germ cell apoptosis ( J:35244 )

♂ • 4-fold increase in the number of apoptotic cells in the seminiferous tubules at 6 weeks of age

♂ • apoptotic cells are clustered and primarily localized in germ cell layers that contain primary spermatocytes

asthenozoospermia ( J:35244 )

♂ • spermatozoa appear almost immotile, with a few displaying sluggish progressive or nonprogressive motility

decreased testis weight ( J:35244 )

♂ • marked but variable reduction in testis weight

abnormal spermatogenesis ( J:35244 )

♂ • defect in the elongation and nuclear condensation stage of spermiogenesis with the shedding of immature germ cells

oligozoospermia ( J:35244 )

♂ • epididymal sperm counts are less than 10% of the numbers found in control mice

teratozoospermia ( J:35244 )

♂ • more than 90% of spermatozoa are morphologically abnormal

abnormal sperm midpiece morphology ( J:35244 )

♂ • deformation of the sperm midpiece

abnormal sperm head morphology ( J:35244 )

♂ • at least 70% of spermatozoa exhibit an aberrant head morphology, in most cases combined with middle piece deformation

abnormal spermatocyte morphology ( J:35244 )

♂ • increased apoptosis of primary spermatocytes

male infertility ( J:35244 )

♂

endocrine/exocrine glands

decreased testis weight ( J:35244 )

♂ • marked but variable reduction in testis weight

cellular

oligozoospermia ( J:35244 )

♂ • epididymal sperm counts are less than 10% of the numbers found in control mice

teratozoospermia ( J:35244 )

♂ • more than 90% of spermatozoa are morphologically abnormal

abnormal sperm midpiece morphology ( J:35244 )

♂ • deformation of the sperm midpiece

abnormal sperm head morphology ( J:35244 )

♂ • at least 70% of spermatozoa exhibit an aberrant head morphology, in most cases combined with middle piece deformation

abnormal spermatocyte morphology ( J:35244 )

♂ • increased apoptosis of primary spermatocytes

increased male germ cell apoptosis ( J:35244 )

♂ • 4-fold increase in the number of apoptotic cells in the seminiferous tubules at 6 weeks of age

♂ • apoptotic cells are clustered and primarily localized in germ cell layers that contain primary spermatocytes

asthenozoospermia ( J:35244 )

♂ • spermatozoa appear almost immotile, with a few displaying sluggish progressive or nonprogressive motility

Genotype
MGI:3051848

cx5

• Allelic Composition: Ube2a^tm1Agr/Ube2a⁺; Ube2b^tm1Jhjh/Ube2b^tm1Jhjh
• Genetic Background: involves: 129P2/OlaHsd * FVB/N

mortality/aging

prenatal lethality, incomplete penetrance ( J:91848 )

♀ • fewer than expected female mutants are found at birth

Genotype
MGI:3051838

cx6

• Allelic Composition: Ube2a^tm1Agr/Y; Ube2b^tm1Jhjh/Ube2b⁺
• Genetic Background: involves: 129P2/OlaHsd * FVB/N

mortality/aging

prenatal lethality, incomplete penetrance ( J:91848 )

♂ • fewer than expected male mutants are found at birth

growth/size/body

decreased birth weight ( J:91848 )

♂ • body weight is markedly reduced at birth

decreased body weight ( J:91848 )

♂ • a body weight reduction of about 37% compared to wild-type littermates is seen at 10 days of age

reproductive system

reproductive system phenotype ( J:91848 )

♂N • males are fertile

Genotype
MGI:3051789

cx7

• Allelic Composition: Ube2a^tm1Agr/Y; Ube2b^tm1Jhjh/Ube2b^tm1Jhjh
• Genetic Background: involves: 129P2/OlaHsd * FVB/N

mortality/aging

prenatal lethality, complete penetrance ( J:91848 )

♂ • no double knockout male mutants are found at birth

Genotype
MGI:3051849

cx8

• Allelic Composition: Ube2a^tm1Agr/Ube2a^tm1Agr; Ube2b^tm1Jhjh/Ube2b⁺
• Genetic Background: involves: 129P2/OlaHsd * FVB/N

mortality/aging

prenatal lethality, incomplete penetrance ( J:91848 )

♀ • fewer than expected female mutants are found at birth

growth/size/body

decreased body weight ( J:91848 )

♀ • body weight reduction of about 31% compared to wild-type littermates is seen at 10 days of age

Genotype
MGI:3051847

cx9

• Allelic Composition: Ube2a^tm1Agr/Ube2a^tm1Agr; Ube2b^tm1Jhjh/Ube2b^tm1Jhjh
• Genetic Background: involves: 129P2/OlaHsd * FVB/N

mortality/aging

prenatal lethality, incomplete penetrance ( J:91848 )

♀ • no double homozygous female mutants are found at birth