All Phenotypes Alpl<tm1(cre)Nagy> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Alpl^tm1(cre)Nagy
targeted mutation 1, Andras Nagy
MGI:2177588

Summary

15 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Rest^tm1.1Yasu/Rest^tm1.2Yasu Alpl^tm1(cre)Nagy/Alpl⁺	involves: 129 * C57BL/6 * C57BL/6J	MGI:5450879
cn2	Alpl^tm1(cre)Nagy/Alpl⁺ Pknox1^tm1.1Rygo/Pknox1^tm1.1Rygo	involves: 129 * C57BL/6 * C57BL/6JJcl	MGI:6887746
cn3	Alpl^tm1(cre)Nagy/Alpl⁺ Atg7^tm1Tchi/Atg7^tm1Tchi	involves: 129 * C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj	MGI:6870513
cn4	Alpl^tm1(cre)Nagy/Alpl⁺ Tet3^tm1.1Gxu/Tet3^tm1.2Gxu	involves: 129 * C57BL/6J * SJL	MGI:5294565
cn5	Alpl^tm1(cre)Nagy/Alpl⁺ Pou5f1^tm1Scho/Pou5f1^tm1.1Scho	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3579642
cn6	Alpl^tm1(cre)Nagy/Alpl⁺ Dicer1^tm1.1Mnn/Dicer1^tm1.2Mnn	involves: 129S1/Sv * 129S1/SvImJ * 129X1/SvJ * C57BL/6J	MGI:3850213
cn7	Alpl^tm1(cre)Nagy/Alpl⁺ Dnmt3a^tm3.1Enl/Dnmt3a^tm3.2Enl	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ	MGI:3047840
cn8	Alpl^tm1(cre)Nagy/Alpl⁺ Dnmt3b^tm5.1Enl/Dnmt3b^tm5.2Enl	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * FVB/N	MGI:3047842
cn9	Alpl^tm1(cre)Nagy/Alpl⁺ Xrcc1^tm1Pmc/Xrcc1^tm1Pmc	involves: 129S1/Sv * 129X1/SvJ	MGI:6827282
cn10	Alpl^tm1(cre)Nagy/Alpl⁺ Dmrt1^tm1Zark/Dmrt1^tm1.1Zark	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3851611
cn11	Guf1^tm1Nju/Guf1^tm1Nju Alpl^tm1(cre)Nagy/Alpl⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:7439374
cn12	Snrpn^tm2.1Kaj/Snrpn⁺ Alpl^tm1(cre)Nagy/Alpl⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5140868
cn13	Alpl^tm1(cre)Nagy/Alpl⁺ Ehmt2^tm2Yshk/Ehmt2^tm2.1Yshk	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA	MGI:3718794
cn14	Alpl^tm1(cre)Nagy/Alpl⁺ Phldb2^tm1Msat/Phldb2^tm1Msat	involves: 129S1/Sv * 129X1/SvJ * C57BL/6JSlc * C57BL/6NCrlj * CBA/JNCrlj	MGI:6364813
cn15	Chtf18^tm1.1KhK/Chtf18^tm1.2Khk Alpl^tm1(cre)Nagy/Alpl⁺	involves: 129S1/Sv * 129X1/SvJ * FVB/N	MGI:5473610

Allelic Composition	Rest^tm1.1Yasu/Rest^tm1.2Yasu Alpl^tm1(cre)Nagy/Alpl⁺
Genetic Background	involves: 129 * C57BL/6 * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alpl^tm1(cre)Nagy mutation (6 available); any Alpl mutation (352 available)
Rest^tm1.1Yasu mutation (1 available); any Rest mutation (96 available)
Rest^tm1.2Yasu mutation (0 available); any Rest mutation (96 available)

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

reproductive system

reproductive system phenotype ( J:190948 )

N	• despite the decrease in primordial germ cell numbers, germ cell numbers at E18.5 and fertility of adult mice are similar to wild-type controls

decreased primordial germ cell number ( J:190948 )

• at E12.5 in the genital ridge

increased primordial germ cell apoptosis ( J:190948 )

• increase in the ratio of apoptotic to viable PGCs at E11.5

cellular

decreased primordial germ cell number ( J:190948 )

• at E12.5 in the genital ridge

increased primordial germ cell apoptosis ( J:190948 )

• increase in the ratio of apoptotic to viable PGCs at E11.5

Allelic Composition	Alpl^tm1(cre)Nagy/Alpl⁺ Pknox1^tm1.1Rygo/Pknox1^tm1.1Rygo
Genetic Background	involves: 129 * C57BL/6 * C57BL/6JJcl

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alpl^tm1(cre)Nagy mutation (6 available); any Alpl mutation (352 available)
Pknox1^tm1.1Rygo mutation (1 available); any Pknox1 mutation (90 available)

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

reproductive system

abnormal spermatogonia morphology ( J:258387 )

• GFRalpha1+ cells (corresponding to A_{single~paired} spermatogonia in control testis) form A_aligned-like morphologies in adult testes

• adult testes contain relatively few c-Kit+ cells with a weak level of c-Kit expression relative to control testes

• c-Kit+ cells aligned more than 32 appear to be absent whereas A_aligned and A1-type spermatogonia are present in control testes, suggesting that c-Kit+ A_aligned spermatogonia fail to differentiate into A1 spermatogonia

decreased male germ cell number ( J:258387 )

• adult seminiferous tubules lack SCP3+ meiotic cells

azoospermia ( J:258387 )

• adult epididymides are devoid of sperm

increased male germ cell apoptosis ( J:258387 )

• a few seminiferous tubules show accumulation of TUNEL+ apoptotic cells inside the lumen

abnormal spermatogonia proliferation ( J:258387 )

• c-Kit+ spermatogonia appear to be PCNA-negative whereas control c-Kit+ spermatogonia express a high level of PCNA, suggesting a possible proliferation defect

• however, GFRalpha1+ cells (most immature spermatogonial cells) are PCNA-negative, similar to control spermatogonia

seminiferous tubule degeneration ( J:258387 )

• at 3 months of age, nearly all seminiferous tubules appear atrophied and show loss of germ cells

• a few tubules exhibit accumulation of TUNEL+ apoptotic cells inside the lumen

small testis ( J:258387 )

• at 3 months of age, testis size is significantly lower than that in controls

decreased testis weight ( J:258387 )

• at 3 months of age, testis weight is significantly lower than that in controls

arrest of spermatogenesis ( J:258387 )

• adult spermatogenesis is arrested at the c-Kit+ spermatogonia stage

cellular

abnormal spermatogonia morphology ( J:258387 )

• GFRalpha1+ cells (corresponding to A_{single~paired} spermatogonia in control testis) form A_aligned-like morphologies in adult testes

• adult testes contain relatively few c-Kit+ cells with a weak level of c-Kit expression relative to control testes

decreased male germ cell number ( J:258387 )

• adult seminiferous tubules lack SCP3+ meiotic cells

azoospermia ( J:258387 )

• adult epididymides are devoid of sperm

increased male germ cell apoptosis ( J:258387 )

• a few seminiferous tubules show accumulation of TUNEL+ apoptotic cells inside the lumen

abnormal spermatogonia proliferation ( J:258387 )

• c-Kit+ spermatogonia appear to be PCNA-negative whereas control c-Kit+ spermatogonia express a high level of PCNA, suggesting a possible proliferation defect

• however, GFRalpha1+ cells (most immature spermatogonial cells) are PCNA-negative, similar to control spermatogonia

endocrine/exocrine glands

seminiferous tubule degeneration ( J:258387 )

• at 3 months of age, nearly all seminiferous tubules appear atrophied and show loss of germ cells

• a few tubules exhibit accumulation of TUNEL+ apoptotic cells inside the lumen

small testis ( J:258387 )

• at 3 months of age, testis size is significantly lower than that in controls

decreased testis weight ( J:258387 )

• at 3 months of age, testis weight is significantly lower than that in controls

Allelic Composition	Alpl^tm1(cre)Nagy/Alpl⁺ Atg7^tm1Tchi/Atg7^tm1Tchi
Genetic Background	involves: 129 * C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alpl^tm1(cre)Nagy mutation (6 available); any Alpl mutation (352 available)
Atg7^tm1Tchi mutation (3 available); any Atg7 mutation (51 available)

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

reproductive system

oligozoospermia ( J:258511 )

• total number of spermatozoa in the cauda epididymis is severely reduced

abnormal acrosome morphology ( J:258511 )

• acrosomes fail to acquire the characteristic crescent moon shape and display various defects, including mislocalization, deformation and fragmentation

• fragmented acrosomes are observed in the Golgi and cap phases

• acrosome shrinkage is detected in the cap phase due to accumulated proacrosomal vesicles derived from the Golgi apparatus

• vacuolated or irregularly shaped acrosomes are seen in subsequent stages of spermiogenesis

abnormal acrosome assembly ( J:258511 )

• acrosome biogenesis is disrupted starting in the Golgi phase: multiple small vesicles are localized to the perinuclear region without fusing with each other in ~30% of Golgi-phase spermatids

• in the cap-phase, the acrosome fails to spread normally along the nucleus and many proacrosomal vesicles accumulate in the concave region near the trans-Golgi stacks in ~27% of spermatids

• in the acrosome and maturation phases, irregular or roughly round acrosomes are found in ~24% of spermatids and the nucleus shows less chromatin condensation and/or impaired nuclear elongation

• defect in acrosome formation is most likely due to the failure of Golgi-derived proacrosomal vesicle fusion and/or membrane trafficking

abnormal proacrosomal vesicle fusion ( J:258511 )

• multiple small vesicles are localized to the perinuclear region without fusing with each other in ~30% of Golgi-phase spermatids

• TEM images show two proacrosomal centers present around the nucleus

globozoospermia ( J:258511 )

• 26.80% of sperm exhibit irregularly shaped round heads, only seen in 0.42% of control sperm

abnormal sperm nucleus morphology ( J:258511 )

• in the acrosome and maturation phases, the nucleus neighboring malformed acrosomes shows less chromatin condensation and/or impaired nuclear elongation, resulting in round or irregularly shaped nuclei

increased male germ cell apoptosis ( J:258511 )

• TUNEL staining showed a significantly higher % of apoptotic cells in the seminiferous tubules (0.47% versus 0.04% in control tubules)

abnormal seminiferous tubule morphology ( J:258511 )

• seminiferous tubule structure appears disorganized: 36.67% of tubules contain large vacuoles in their lumen versus only 1.33% of control tubules

• TUNEL staining showed a significantly higher % of apoptotic cells in the seminiferous tubules (0.47% versus 0.04% in control tubules)

• however, seminiferous tubule diameter is normal

small testis ( J:258511 )

• testis size is significantly smaller than that in control males

decreased testis weight ( J:258511 )

• testis weight is significantly lower than that in control males

abnormal spermiogenesis ( J:258511 )

• acrosome biogenesis is highly disrupted during early stages of spermiogenesis

abnormal cauda epididymis morphology ( J:258511 )

• many detached premature germ cells and abnormal spermatozoa are detected in the cauda epididymis

reduced male fertility ( J:258511 )

• males are almost completely infertile: when mated to wild-type females for a 2-month period, pregnancy rate is only 8.14% versus 87.01% for control males

impaired fertilization ( J:258511 )

• in vivo fertilization capacity of spermatozoa is impaired; when male mice are mated with wild-type females, no 2-cell embryos are obtained

• however, this defect is successfully rescued by intracytoplasmic sperm injections

impaired acrosome reaction ( J:258511 )

• in vitro, the rate of A23187-induced acrosome reaction is severely reduced: after induction, only 38.67% of spermatozoa show loss of their PSA-positive structures versus 63.87% in control sperm, suggesting failure to release acrosomal contents

• however, the rate of spontaneous acrosome reaction is relatively normal

cellular

oligozoospermia ( J:258511 )

• total number of spermatozoa in the cauda epididymis is severely reduced

abnormal acrosome morphology ( J:258511 )

• acrosomes fail to acquire the characteristic crescent moon shape and display various defects, including mislocalization, deformation and fragmentation

• fragmented acrosomes are observed in the Golgi and cap phases

• acrosome shrinkage is detected in the cap phase due to accumulated proacrosomal vesicles derived from the Golgi apparatus

• vacuolated or irregularly shaped acrosomes are seen in subsequent stages of spermiogenesis

abnormal acrosome assembly ( J:258511 )

• acrosome biogenesis is disrupted starting in the Golgi phase: multiple small vesicles are localized to the perinuclear region without fusing with each other in ~30% of Golgi-phase spermatids

• in the cap-phase, the acrosome fails to spread normally along the nucleus and many proacrosomal vesicles accumulate in the concave region near the trans-Golgi stacks in ~27% of spermatids

• in the acrosome and maturation phases, irregular or roughly round acrosomes are found in ~24% of spermatids and the nucleus shows less chromatin condensation and/or impaired nuclear elongation

• defect in acrosome formation is most likely due to the failure of Golgi-derived proacrosomal vesicle fusion and/or membrane trafficking

abnormal proacrosomal vesicle fusion ( J:258511 )

• TEM images show two proacrosomal centers present around the nucleus

• multiple small vesicles are localized to the perinuclear region without fusing with each other in ~30% of Golgi-phase spermatids

globozoospermia ( J:258511 )

• 26.80% of sperm exhibit irregularly shaped round heads, only seen in 0.42% of control sperm

abnormal sperm nucleus morphology ( J:258511 )

impaired autophagy ( J:258511 )

• autophagic flux is disrupted in the testis, as indicated by a 1.5-fold increase in polyubiquitinated protein level and accumulation of the autophagic substrate SQSTM1/p62 and of LC3-I but not the membrane-associated form LC3-II

increased male germ cell apoptosis ( J:258511 )

• TUNEL staining showed a significantly higher % of apoptotic cells in the seminiferous tubules (0.47% versus 0.04% in control tubules)

homeostasis/metabolism

impaired autophagy ( J:258511 )

endocrine/exocrine glands

abnormal seminiferous tubule morphology ( J:258511 )

• seminiferous tubule structure appears disorganized: 36.67% of tubules contain large vacuoles in their lumen versus only 1.33% of control tubules

• TUNEL staining showed a significantly higher % of apoptotic cells in the seminiferous tubules (0.47% versus 0.04% in control tubules)

• however, seminiferous tubule diameter is normal

small testis ( J:258511 )

• testis size is significantly smaller than that in control males

decreased testis weight ( J:258511 )

• testis weight is significantly lower than that in control males

Allelic Composition	Alpl^tm1(cre)Nagy/Alpl⁺ Tet3^tm1.1Gxu/Tet3^tm1.2Gxu
Genetic Background	involves: 129 * C57BL/6J * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alpl^tm1(cre)Nagy mutation (6 available); any Alpl mutation (352 available)
Tet3^tm1.1Gxu mutation (0 available); any Tet3 mutation (60 available)
Tet3^tm1.2Gxu mutation (0 available); any Tet3 mutation (60 available)

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

reproductive system

reduced female fertility ( J:176196 )

• decrease in frequency of successful pregnancy per mating and litter size when crossed to wild-type males

cellular

abnormal DNA methylation ( J:176196 )

• paternal genome reprogramming is impaired in offspring of mutant females

maternal effect ( J:176196 )

• paternal genome reprogramming is impaired in offspring of mutant females

• inheriting the mutant allele maternally impairs embryonic survival

Allelic Composition	Alpl^tm1(cre)Nagy/Alpl⁺ Pou5f1^tm1Scho/Pou5f1^tm1.1Scho
Genetic Background	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alpl^tm1(cre)Nagy mutation (6 available); any Alpl mutation (352 available)
Pou5f1^tm1.1Scho mutation (0 available); any Pou5f1 mutation (82 available)
Pou5f1^tm1Scho mutation (1 available); any Pou5f1 mutation (82 available)

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

cellular

oligozoospermia ( J:95317 )

• variable depletion of spermatogenic cells is seen with testes containing both germ cell free seminiferous tubules and unaffected tubules

• the percentage of germ cell free tubules varied from 30% to 100%; however unlike females gem cell depletion did no increase with age

decreased primordial germ cell number ( J:95317 )

• at E10.5 and E12.5 the late migratory and postmigratory primordial germ cell populations are reduced; however the size of the premigratory (E6.5) and early migratory (E9.5) primordial germ cell populations are normal

• up to 70% of primordial germ cells undergo apoptosis before colonizing the gonadal ridges

reproductive system

oligozoospermia ( J:95317 )

• variable depletion of spermatogenic cells is seen with testes containing both germ cell free seminiferous tubules and unaffected tubules

• the percentage of germ cell free tubules varied from 30% to 100%; however unlike females gem cell depletion did no increase with age

decreased primordial germ cell number ( J:95317 )

• up to 70% of primordial germ cells undergo apoptosis before colonizing the gonadal ridges

decreased primordial ovarian follicle number ( J:95317 )

• at 3 weeks of age the number of primordial follicles is reduced 25 - 100-fold

absent ovarian follicles ( J:95317 )

• at 6 weeks of age hardly any primordial follicles and very few growing follicles are seen

• after 6 weeks of age ovarian follicles are mostly absent

small seminiferous tubules ( J:95317 )

• seminiferous tubules lacking germ cells are reduced in diameter

increased Leydig cell number ( J:95317 )

• seen around seminiferous tubules lacking germ cells

female infertility ( J:95317 )

reduced male fertility ( J:95317 )

• fertility is variably impaired depending on the efficiency of Cre recombination (averaging about 60%)

• males that do produce offspring pass on the unrecombined allele

endocrine/exocrine glands

decreased primordial ovarian follicle number ( J:95317 )

• at 3 weeks of age the number of primordial follicles is reduced 25 - 100-fold

absent ovarian follicles ( J:95317 )

• at 6 weeks of age hardly any primordial follicles and very few growing follicles are seen

• after 6 weeks of age ovarian follicles are mostly absent

small seminiferous tubules ( J:95317 )

• seminiferous tubules lacking germ cells are reduced in diameter

increased Leydig cell number ( J:95317 )

• seen around seminiferous tubules lacking germ cells

embryo

abnormal gonadal ridge morphology ( J:95317 )

• clusters of apoptotic primordial germ cells are detected on the genital ridge at E10.5

Allelic Composition	Alpl^tm1(cre)Nagy/Alpl⁺ Dicer1^tm1.1Mnn/Dicer1^tm1.2Mnn
Genetic Background	involves: 129S1/Sv * 129S1/SvImJ * 129X1/SvJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alpl^tm1(cre)Nagy mutation (6 available); any Alpl mutation (352 available)
Dicer1^tm1.1Mnn mutation (0 available); any Dicer1 mutation (96 available)
Dicer1^tm1.2Mnn mutation (0 available); any Dicer1 mutation (96 available)

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

reproductive system

abnormal oocyte morphology ( J:150221 )

• half of the ovulated oocytes exhibit defects in spindles and have scattered chromosomes unlike in wild-type oocytes

abnormal meiotic spindle morphology ( J:150221 )

• half of the ovulated oocytes exhibit defects in spindles

cellular

abnormal oocyte morphology ( J:150221 )

• half of the ovulated oocytes exhibit defects in spindles and have scattered chromosomes unlike in wild-type oocytes

abnormal meiotic spindle morphology ( J:150221 )

• half of the ovulated oocytes exhibit defects in spindles

Allelic Composition	Alpl^tm1(cre)Nagy/Alpl⁺ Dnmt3a^tm3.1Enl/Dnmt3a^tm3.2Enl
Genetic Background	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alpl^tm1(cre)Nagy mutation (6 available); any Alpl mutation (352 available)
Dnmt3a^tm3.1Enl mutation (2 available); any Dnmt3a mutation (139 available)
Dnmt3a^tm3.2Enl mutation (0 available); any Dnmt3a mutation (139 available)

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

endocrine/exocrine glands

decreased testis weight ( J:91108 )

• testes weight is greatly reduced at 11 weeks of age

reproductive system

azoospermia ( J:91108 )

• at P11 the number of spermatogonia are reduced and by 11 weeks of age few spermatogonia and no spermatocytes, spermatids, or spermatozoa are seen

decreased testis weight ( J:91108 )

• testes weight is greatly reduced at 11 weeks of age

female infertility ( J:91108 )

• all embryos die around E10.5 with open neural tubes, absent branchial arches and pale skin

• this is a maternal effect mutation resulting from impaired maternal imprinting

male infertility ( J:91108 )

• no pregnancies result from crossing mutant males with wild-type females

cellular

azoospermia ( J:91108 )

• at P11 the number of spermatogonia are reduced and by 11 weeks of age few spermatogonia and no spermatocytes, spermatids, or spermatozoa are seen

Allelic Composition	Alpl^tm1(cre)Nagy/Alpl⁺ Dnmt3b^tm5.1Enl/Dnmt3b^tm5.2Enl
Genetic Background	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alpl^tm1(cre)Nagy mutation (6 available); any Alpl mutation (352 available)
Dnmt3b^tm5.1Enl mutation (3 available); any Dnmt3b mutation (52 available)
Dnmt3b^tm5.2Enl mutation (0 available); any Dnmt3b mutation (52 available)

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

reproductive system

reproductive system phenotype ( J:91108 )

N	• crossing mutant males or females with wild-type mice results in the generation of litters of healthy pups

Allelic Composition	Alpl^tm1(cre)Nagy/Alpl⁺ Xrcc1^tm1Pmc/Xrcc1^tm1Pmc
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alpl^tm1(cre)Nagy mutation (6 available); any Alpl mutation (352 available)
Xrcc1^tm1Pmc mutation (1 available); any Xrcc1 mutation (45 available)

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

reproductive system

abnormal spermatogonia morphology ( J:292217 )

• increased expression of DNA damage marker gamma-H2AX in spermatogonia at 8 weeks of age

• decreased expression of self-differentiation marker KIT and self-renewal marker ZBTB16 (zinc finger and BTB domain containing 16, also known as PLZF) in testicular tissues, indicating loss of stemness in spermatogonial stem cells

increased testis apoptosis ( J:292217 )

• up-regulated expression of apoptotic mitochondrial genes and increased TUNEL+ spermatogenic cells detected in testes, along with increased BAX expression, decreased BCL2 expression, and higher levels of the cleaved forms of caspase-3 and caspase-9

asthenozoospermia ( J:292217 )

• decreased sperm motility at 8 weeks of age

abnormal seminiferous tubule morphology ( J:292217 )

• markedly reduced cell counts per seminiferous tubule at 8 weeks of age

abnormal seminiferous tubule epithelium morphology ( J:292217 )

• missing layers and epithelial disorganization in seminiferous tubules at 8 weeks of age

small testis ( J:292217 )

• severely reduced testis size at 8 weeks of age

decreased testis weight ( J:292217 )

• severe reduction in testis weight at 8 weeks of age

• however, body weight is normal

abnormal spermatogenesis ( J:292217 )

• decreased expression of spermatogenesis markers Stra8 (stimulated by retinoic acid gene 8) and Sycp3 (synaptonemal complex protein 3) in testes, indicating impaired spermatogenesis

oligozoospermia ( J:292217 )

• decreased sperm concentration at 8 weeks of age

abnormal spermatocyte morphology ( J:292217 )

• severe nuclear condensation and mitochondrial vacuolization in spermatocytes from 8-wk-old mice

male infertility ( J:292217 )

• male mice mated with wild-type female mice fail to produce offspring

cellular

oligozoospermia ( J:292217 )

• decreased sperm concentration at 8 weeks of age

abnormal spermatocyte morphology ( J:292217 )

• severe nuclear condensation and mitochondrial vacuolization in spermatocytes from 8-wk-old mice

abnormal spermatogonia morphology ( J:292217 )

• increased expression of DNA damage marker gamma-H2AX in spermatogonia at 8 weeks of age

abnormal mitochondrial morphology ( J:292217 )

• severe mitochondrial vacuolization in spermatocytes from 8-wk-old mice

• however, number of mitochondria is normal

increased testis apoptosis ( J:292217 )

asthenozoospermia ( J:292217 )

• decreased sperm motility at 8 weeks of age

abnormal mitochondrial physiology ( J:292217 )

• marked reduction in mitochondrial membrane potential in testicular cells, indicating mitochondria dysfunction

abnormal mitochondrial ATP synthesis coupled electron transport ( J:292217 )

• marked decrease in transcriptional levels of mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 (Nd2), -4, -5, -6 (complex I) and cytochrome b (complex III), along with significant reduction in complex I and complex III activities and ATP levels in testicular tissues

oxidative stress ( J:292217 )

• reduction in glutathione to glutathione disulfide (GSH/GSSG) ratio, activity of superoxide dismutase, and catalase activity in testes at 8 weeks of age

• increase in malondialdehyde level and expression of DNA damage marker gamma-H2AX in testes at 8 weeks of age

endocrine/exocrine glands

increased testis apoptosis ( J:292217 )

abnormal seminiferous tubule morphology ( J:292217 )

• markedly reduced cell counts per seminiferous tubule at 8 weeks of age

abnormal seminiferous tubule epithelium morphology ( J:292217 )

• missing layers and epithelial disorganization in seminiferous tubules at 8 weeks of age

small testis ( J:292217 )

• severely reduced testis size at 8 weeks of age

decreased testis weight ( J:292217 )

• severe reduction in testis weight at 8 weeks of age

• however, body weight is normal

homeostasis/metabolism

decreased catalase activity ( J:292217 )

• reduction in catalase activity in testes at 8 weeks of age

Allelic Composition	Alpl^tm1(cre)Nagy/Alpl⁺ Dmrt1^tm1Zark/Dmrt1^tm1.1Zark
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alpl^tm1(cre)Nagy mutation (6 available); any Alpl mutation (352 available)
Dmrt1^tm1.1Zark mutation (0 available); any Dmrt1 mutation (49 available)
Dmrt1^tm1Zark mutation (0 available); any Dmrt1 mutation (49 available)

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

reproductive system

abnormal spermatogonia morphology ( J:122954 )

• many germ cells fail to migrate to the periphery

decreased male germ cell number ( J:122954 )

• fewer germ cells indicating cells fail to reactivate mitosis

abnormal testis development ( J:122954 )

• many germ cells fail to migrate to the periphery

• however, Sertoli cells are normally polarized

endocrine/exocrine glands

abnormal testis development ( J:122954 )

• many germ cells fail to migrate to the periphery

• however, Sertoli cells are normally polarized

cellular

abnormal spermatogonia morphology ( J:122954 )

• many germ cells fail to migrate to the periphery

decreased male germ cell number ( J:122954 )

• fewer germ cells indicating cells fail to reactivate mitosis

Allelic Composition	Guf1^tm1Nju/Guf1^tm1Nju Alpl^tm1(cre)Nagy/Alpl⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alpl^tm1(cre)Nagy mutation (6 available); any Alpl mutation (352 available)
Guf1^tm1Nju mutation (0 available); any Guf1 mutation (43 available)

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

reproductive system

oligozoospermia ( J:333298 )

small seminiferous tubules ( J:333298 )

decreased testis weight ( J:333298 )

male infertility ( J:333298 )

endocrine/exocrine glands

small seminiferous tubules ( J:333298 )

decreased testis weight ( J:333298 )

cellular

oligozoospermia ( J:333298 )

Allelic Composition	Snrpn^tm2.1Kaj/Snrpn⁺ Alpl^tm1(cre)Nagy/Alpl⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alpl^tm1(cre)Nagy mutation (6 available); any Alpl mutation (352 available)
Snrpn^tm2.1Kaj mutation (1 available); any Snrpn mutation (23 available)

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

mortality/aging

postnatal lethality, complete penetrance ( J:174457 )

• when the floxed allele is paternally inherited, only one mouse survived beyond P2 to die at P7

• however, mice that inherit the floxed allele maternally exhibit normal survival

growth/size/body

decreased birth weight ( J:174457 )

• when the floxed allele is paternally inherited

cellular

abnormal DNA methylation ( J:174457 )

• when the floxed allele is paternally inherited, DNA methylation at Mkrn3 and Ndn is increased compared to in wild-type mice

behavior/neurological

absent gastric milk in neonates ( J:174457 )

• when the floxed allele is paternally inherited

Allelic Composition	Alpl^tm1(cre)Nagy/Alpl⁺ Ehmt2^tm2Yshk/Ehmt2^tm2.1Yshk
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alpl^tm1(cre)Nagy mutation (6 available); any Alpl mutation (352 available)
Ehmt2^tm2.1Yshk mutation (0 available); any Ehmt2 mutation (57 available)
Ehmt2^tm2Yshk mutation (1 available); any Ehmt2 mutation (57 available)

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

reproductive system

small testis ( J:123269 )

• in adults

abnormal gametogenesis ( J:123269 )

decreased oocyte number ( J:123269 )

• germ cell numbers are reduced by about 20% at E16.5 and by about 90% from E17.5 onwards

• very few primordial oocytes are present at P0

• numbers of maturing and primordial oocytes are greatly reduced in adults

decreased male germ cell number ( J:123269 )

• about 70% of seminiferous tubules lack all germ cells while the remainder have only a few spermatogonia and leptotene-like cells

azoospermia ( J:123269 )

abnormal female meiosis ( J:123269 )

• meiosis is normal until the zygotene stage however very few cells progress to the pachytene stage

• about 20% of pachytene oocytes display perturbed synaptic progression

arrest of male meiosis ( J:123269 )

• arrest of meiosis in the early pachytene stage with incomplete synaptonemal complex formation

abnormal fertility/fecundity ( J:123269 )

female infertility ( J:123269 )

• all females older than 7 months of age were infertile

• prior to 7 months of age 19 of 22 females were infertile

decreased litter size ( J:123269 )

• the few fertile females produce smaller litters with some progeny expressing the floxed allele indicating incomplete Cre-mediated recombinatio

male infertility ( J:123269 )

• all males are infertile

endocrine/exocrine glands

small testis ( J:123269 )

• in adults

cellular

decreased oocyte number ( J:123269 )

• germ cell numbers are reduced by about 20% at E16.5 and by about 90% from E17.5 onwards

• very few primordial oocytes are present at P0

• numbers of maturing and primordial oocytes are greatly reduced in adults

decreased male germ cell number ( J:123269 )

• about 70% of seminiferous tubules lack all germ cells while the remainder have only a few spermatogonia and leptotene-like cells

azoospermia ( J:123269 )

abnormal female meiosis ( J:123269 )

• meiosis is normal until the zygotene stage however very few cells progress to the pachytene stage

• about 20% of pachytene oocytes display perturbed synaptic progression

arrest of male meiosis ( J:123269 )

• arrest of meiosis in the early pachytene stage with incomplete synaptonemal complex formation

Allelic Composition	Alpl^tm1(cre)Nagy/Alpl⁺ Phldb2^tm1Msat/Phldb2^tm1Msat
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6JSlc * C57BL/6NCrlj * CBA/JNCrlj

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alpl^tm1(cre)Nagy mutation (6 available); any Alpl mutation (352 available)
Phldb2^tm1Msat mutation (0 available); any Phldb2 mutation (66 available)

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

nervous system

abnormal dendritic spine morphology ( J:275597 )

• eccentrically shifted PSD-95 localization toward the dendritic shaft

• reduced NMDA and GluA2 receptor accumulation in dendritic spines

• however, postpynaptic density areas are normal

reduced long-term potentiation ( J:275597 )

• induced by high-frequency stimulation

• however, basal synaptic function is normal

behavior/neurological

behavior/neurological phenotype ( J:275597 )

N	• mice exhibit normal locomotor activity and movement in the home cage

abnormal spatial reference memory ( J:275597 )

• in a T-maze, mice exhibit fewer correct choices compared with wild-type mice

• however, duration time and total distances are normal

Allelic Composition	Chtf18^tm1.1KhK/Chtf18^tm1.2Khk Alpl^tm1(cre)Nagy/Alpl⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alpl^tm1(cre)Nagy mutation (6 available); any Alpl mutation (352 available)
Chtf18^tm1.1KhK mutation (0 available); any Chtf18 mutation (34 available)
Chtf18^tm1.2Khk mutation (0 available); any Chtf18 mutation (34 available)

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

reproductive system

abnormal male germ cell morphology ( J:194119 )

• abnormal spermatogenic cells as in Chtf18^tm1.1Khk homozygotes

cellular

abnormal male germ cell morphology ( J:194119 )

• abnormal spermatogenic cells as in Chtf18^tm1.1Khk homozygotes

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