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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Arid4btm1Alb
targeted mutation 1, Arthur L Beaudet
MGI:3687005
Summary 7 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Arid4btm1Alb/Arid4btm1Alb involves: 129S7/SvEvBrd * C57BL/6 MGI:3717485
ht2
Arid4btm1Alb/Arid4b+ involves: 129S7/SvEvBrd * C57BL/6 MGI:3717486
cn3
Arid4btm1Alb/Arid4btm1.1Mywu
Tg(Amh-cre)8815Reb/0
involves: 129S1/SvImJ * 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6J MGI:5905055
cx4
Arid4atm1Alb/Arid4atm1Alb
Arid4btm1Alb/Arid4b+
involves: 129S7/SvEvBrd MGI:3817455
cx5
Arid4atm1Alb/Arid4atm1Alb
Arid4btm1Alb/Arid4b+
involves: 129S7/SvEvBrd * C57BL/6 MGI:3717488
cx6
Arid4atm1Alb/Arid4atm1Alb
Arid4btm1Alb/Arid4btm1Alb
involves: 129S7/SvEvBrd * C57BL/6 MGI:3717487
cx7
Arid4btm1Alb/Arid4b+
Snrpntm4Alb/Snrpn+
involves: 129S7/SvEvBrd * C57BL/6 MGI:3717489


Genotype
MGI:3717485
hm1
Allelic
Composition
Arid4btm1Alb/Arid4btm1Alb
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Arid4btm1Alb mutation (0 available); any Arid4b mutation (47 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• few embryos are recovered at E3.5 and none at E7.5




Genotype
MGI:3717486
ht2
Allelic
Composition
Arid4btm1Alb/Arid4b+
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Arid4btm1Alb mutation (0 available); any Arid4b mutation (47 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• DNA methylation is normal




Genotype
MGI:5905055
cn3
Allelic
Composition
Arid4btm1Alb/Arid4btm1.1Mywu
Tg(Amh-cre)8815Reb/0
Genetic
Background
involves: 129S1/SvImJ * 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Arid4btm1.1Mywu mutation (0 available); any Arid4b mutation (47 available)
Arid4btm1Alb mutation (0 available); any Arid4b mutation (47 available)
Tg(Amh-cre)8815Reb mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• only a few spermatogonia are detected in seminiferous tubules at P10
• immunofluorescence analysis revealed a significantly reduced number of TRA98+ germ cells at P10, with only few seminiferous tubules containing germ cells by P20
• no germ cells are produced in tubules that contain immature (AMH+) Sertoli cells at P20
• however, population of germ cells is normal at E15.5
• fewer germ cells are found in seminiferous tubules relative to controls at P10 and P20
• sloughing of cells into the lumen of the tubules is clearly detected at P20
• at P20, immature (AMH+) Sertoli cells are still present in many tubules, unlike in control testes; no germ cells are produced in such tubules, resulting in the formation of Sertoli cell-only tubules
• at P42, some tubules are completely devoid of germ cells and contain only Sertoli cells at the basal membrane
• only a thin layer of seminiferous tubule epithelium is observed at P10, unlike in control testes where thickness of the germinal epithelium is increased
• large increase in seminiferous tubular diameter and widened central lumen at P30 and P42
• many seminiferous tubules undergo severe vacuolar degeneration at P42
• Sertoli cell maturation is delayed, as indicated by persistent expression of AMH (an immature Sertoli cell marker) at P10, P20, P30, and P42, despite decreases in intensity
• at P20, germ cells are produced only in seminiferous tubules that do not express AMH, suggesting that immature Sertoli cells are unable to support developing germ cells even at puberty
• significantly reduced testis size at 6 weeks of age
• normal testis size at P2.5 with significant decrease in testis size from P10 onward
• at 6 weeks of age, testis weight is reduced to ~25% of control values
• significant increase in testis apoptosis at P10, P20, and P30, as shown by TUNEL assays
• strikingly, ~60% seminiferous tubules are TUNEL+ at P10
• although number of TUNEL+ tubules decreases with age, apoptotic cells are still found in ~25% of tubules at P30
• down-regulation of androgen receptor (AR) responsive genes Rhox5 and Cldn3 in testes at P42
• however, despite delayed maturation of Sertoli cells, AR expression in Sertoli cells is normal at P10, P20, and P30
• males exhibit delayed onset of spermatogenesis as well as impaired spermatogenic progression
• absence of mature spermatozoa in the epididymal lumen at P42
• no round spermatids are present in seminiferous tubules at P20, unlike in control testes
• only round spermatids, but no elongating spermatids, are present in tubules at P30, unlike in control testes
• no elongating spermatids are present in tubules at P42, unlike in control testes
• only few round spermatids are present in the epididymal lumen at P42
• spermatogenic arrest at the round spermatid stage
• significantly reduced epididymis size at 6 weeks of age
• at 6 weeks of age, epididymis weight is reduced to ~65% of control values
• males are completely infertile

homeostasis/metabolism
• males show significantly increased serum FSH levels at 2 months of age
• however, serum testosterone levels are normal
• males show significantly increased serum LH levels at 2 months of age

endocrine/exocrine glands
• fewer germ cells are found in seminiferous tubules relative to controls at P10 and P20
• sloughing of cells into the lumen of the tubules is clearly detected at P20
• at P20, immature (AMH+) Sertoli cells are still present in many tubules, unlike in control testes; no germ cells are produced in such tubules, resulting in the formation of Sertoli cell-only tubules
• at P42, some tubules are completely devoid of germ cells and contain only Sertoli cells at the basal membrane
• only a thin layer of seminiferous tubule epithelium is observed at P10, unlike in control testes where thickness of the germinal epithelium is increased
• large increase in seminiferous tubular diameter and widened central lumen at P30 and P42
• many seminiferous tubules undergo severe vacuolar degeneration at P42
• Sertoli cell maturation is delayed, as indicated by persistent expression of AMH (an immature Sertoli cell marker) at P10, P20, P30, and P42, despite decreases in intensity
• at P20, germ cells are produced only in seminiferous tubules that do not express AMH, suggesting that immature Sertoli cells are unable to support developing germ cells even at puberty
• significantly reduced testis size at 6 weeks of age
• normal testis size at P2.5 with significant decrease in testis size from P10 onward
• at 6 weeks of age, testis weight is reduced to ~25% of control values
• significant increase in testis apoptosis at P10, P20, and P30, as shown by TUNEL assays
• strikingly, ~60% seminiferous tubules are TUNEL+ at P10
• although number of TUNEL+ tubules decreases with age, apoptotic cells are still found in ~25% of tubules at P30
• down-regulation of androgen receptor (AR) responsive genes Rhox5 and Cldn3 in testes at P42
• however, despite delayed maturation of Sertoli cells, AR expression in Sertoli cells is normal at P10, P20, and P30

cellular
• no round spermatids are present in seminiferous tubules at P20, unlike in control testes
• only round spermatids, but no elongating spermatids, are present in tubules at P30, unlike in control testes
• no elongating spermatids are present in tubules at P42, unlike in control testes
• only few round spermatids are present in the epididymal lumen at P42
• only a few spermatogonia are detected in seminiferous tubules at P10
• immunofluorescence analysis revealed a significantly reduced number of TRA98+ germ cells at P10, with only few seminiferous tubules containing germ cells by P20
• no germ cells are produced in tubules that contain immature (AMH+) Sertoli cells at P20
• however, population of germ cells is normal at E15.5
• absence of mature spermatozoa in the epididymal lumen at P42




Genotype
MGI:3817455
cx4
Allelic
Composition
Arid4atm1Alb/Arid4atm1Alb
Arid4btm1Alb/Arid4b+
Genetic
Background
involves: 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Arid4atm1Alb mutation (0 available); any Arid4a mutation (37 available)
Arid4btm1Alb mutation (0 available); any Arid4b mutation (47 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 25% of mice die before 1 month
• mice exhibit increased mortality at 7 months of age

hematopoietic system
• increased in the spleen and bone marrow
• mice that exhibit acute myeloid leukemia also present with bone marrow containing a mixture of immature and dysplastic white blood cell precursors with more than 20% non-lymphoid immature forms and blasts unlike in wild-type mice
• the peripheral blood of mice with acute myeloid leukemia (AML) contains more than 20% atypical cells with morphology consistent with blasts and immature myeloid precursors unlike in wild-type mice
• the bone marrow of mice with acute myeloid leukemia (AML)
• the spleen of mice of mice with acute myeloid leukemia (AML)
• in the peripheral blood of mice with acute myeloid leukemia (AML)
• in the peripheral blood of mice with acute myeloid leukemia (AML)
• the bone marrow and spleens of mice with acute myeloid leukemia (AML)
• the spleen of mice with acute myeloid leukemia (AML)
• the bone marrow spleens of mice with acute myeloid leukemia (AML)
• in mice with acute myeloid leukemia (AML)
• the bone marrow of mice with acute myeloid leukemia (AML)
• mice with acute myeloid leukemia (AML) exhibit monocytosis and hemophagocytosis
• hematopoietic stem cell populations are expanded in the bone marrow and spleen compared to in wild-type mice and Arid4atm1Alb homozygotes
• in mice with acute myeloid leukemia (AML)

neoplasm
• 83% of mice develop acute myeloid leukemia between 7 and 15 months of age
• mice with acute myeloid leukemia (AML) also develop myeloid sarcomas in spleens and livers

liver/biliary system
• in mice with acute myeloid leukemia (AML)

skeleton
• mice that exhibit acute myeloid leukemia (AML) also present with bone marrow containing a mixture of immature and dysplastic white blood cell precursors with more than 20% non-lymphoid immature forms and blasts unlike in wild-type mice
• the bone marrow of mice with AML increase in granulocytes, monocytes, T lymphoid cells, and erythroid cells and a decrease in B lymphoid cells compared to in wild-type mice
• hematopoietic stem cell populations are expanded in the bone marrow compared to in wild-type mice and Arid4atm1Alb homozygotes

respiratory system
• mice with acute myeloid leukemia (AML) exhibit nucleated elements in lung blood vessels indicative of leukemic involvement

cardiovascular system
• mice with acute myeloid leukemia (AML) exhibit nucleated elements in lung, kidney and lymph node blood vessels indicative of leukemic involvement
• mice with acute myeloid leukemia (AML) exhibit nucleated elements in kidney blood vessels indicative of leukemic involvement
• mice with acute myeloid leukemia (AML) exhibit nucleated elements in lung blood vessels indicative of leukemic involvement

renal/urinary system
• mice with acute myeloid leukemia (AML) exhibit nucleated elements in kidney blood vessels indicative of leukemic involvement

growth/size/body
• at 7 weeks of age, mice weigh 30% less than wild-type mice

immune system
• mice that exhibit acute myeloid leukemia also present with bone marrow containing a mixture of immature and dysplastic white blood cell precursors with more than 20% non-lymphoid immature forms and blasts unlike in wild-type mice
• in the peripheral blood of mice with acute myeloid leukemia (AML)
• the bone marrow and spleens of mice with acute myeloid leukemia (AML)
• the spleen of mice with acute myeloid leukemia (AML)
• the bone marrow spleens of mice with acute myeloid leukemia (AML)
• in mice with acute myeloid leukemia (AML)
• the bone marrow of mice with acute myeloid leukemia (AML)
• mice with acute myeloid leukemia (AML) exhibit monocytosis and hemophagocytosis
• in mice with acute myeloid leukemia (AML)

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
acute myeloid leukemia DOID:9119 OMIM:601626
J:141004




Genotype
MGI:3717488
cx5
Allelic
Composition
Arid4atm1Alb/Arid4atm1Alb
Arid4btm1Alb/Arid4b+
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Arid4atm1Alb mutation (0 available); any Arid4a mutation (37 available)
Arid4btm1Alb mutation (0 available); any Arid4b mutation (47 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• 1 of 7 mice lacks correct DNA methylation patterns
• trimethylation at H4K20 is lost in all mice
• maternal imprinting is defective

reproductive system




Genotype
MGI:3717487
cx6
Allelic
Composition
Arid4atm1Alb/Arid4atm1Alb
Arid4btm1Alb/Arid4btm1Alb
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Arid4atm1Alb mutation (0 available); any Arid4a mutation (37 available)
Arid4btm1Alb mutation (0 available); any Arid4b mutation (47 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging




Genotype
MGI:3717489
cx7
Allelic
Composition
Arid4btm1Alb/Arid4b+
Snrpntm4Alb/Snrpn+
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Arid4btm1Alb mutation (0 available); any Arid4b mutation (47 available)
Snrpntm4Alb mutation (0 available); any Snrpn mutation (13 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• 14 of 18 mice lack correct DNA methylation patterns





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last database update
10/10/2017
MGI 6.10
The Jackson Laboratory