All Phenotypes Dicer1<tm1Bdh> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Dicer1^tm1Bdh
targeted mutation 1, Brian D Harfe
MGI:3589208

Summary

24 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Dicer1^tm1Bdh/Dicer1^tm1Bdh Tg(Pax2-cre)1Akg/0	involves: 129	MGI:7439354
cn2	Dicer1^tm1Bdh/Dicer1^tm1Bdh Amhr2^tm3(cre)Bhr/Amhr2⁺	involves: 129	MGI:4360937
cn3	Dicer1^tm1Bdh/Dicer1^tm1Bdh Shh^{tm1(EGFP/cre)Cjt}/Shh⁺	involves: 129	MGI:4943703
cn4	Dicer1^tm1Bdh/Dicer1^tm1Bdh Hprt1^{tm1(Pck1-cre)Vhh}/Y	involves: 129 * 129P2/OlaHsd	MGI:5437747
cn5	Dicer1^tm1Bdh/Dicer1^tm1Bdh Nkx2-5^tm2(cre)Rph/Nkx2-5⁺	involves: 129 * 129S1/Sv	MGI:7341797
cn6	Dicer1^tm1Bdh/Dicer1⁺ Yy1^tm2.1Yshi/Yy1⁺ Shh^{tm1(EGFP/cre)Cjt}/Shh⁺	involves: 129 * 129S4/SvJae * C57BL/6	MGI:5902326
cn7	Dicer1^tm1Bdh/Dicer1^tm1Bdh Nkx2-5^tm1(cre)Rjs/Nkx2-5⁺	involves: 129 * 129S7/SvEvBrd * C57BL/6	MGI:5575766
cn8	Dicer1^tm1Bdh/Dicer1^tm1Bdh Aicda^tm1(cre)Njen/Aicda⁺	involves: 129 * C57BL/6	MGI:5315120
cn9	Dicer1^tm1Bdh/Dicer1^tm1Bdh Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺	involves: 129 * C57BL/6 * CBA	MGI:6156399
cn10	Dicer1^tm1Bdh/Dicer1^tm1Bdh Tg(CAG-cre/Esr1*)5Amc/0	involves: 129 * C57BL/6 * CBA	MGI:6449234
cn11	Dicer1^tm1Bdh/Dicer1⁺ H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺	involves: 129 * C57BL/6 * CBA/J	MGI:4868201
cn12	Dicer1^tm1Bdh/Dicer1^tm1Bdh H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺	involves: 129 * C57BL/6 * CBA/J	MGI:4868120
cn13	Dicer1^tm1Bdh/Dicer1^tm1Bdh Tg(Cd4-cre)1Cwi/0	involves: 129 * C57BL/6 * DBA/2	MGI:3806246
cn14	Dicer1^tm1Bdh/Dicer1^tm1Bdh Tg(NEUROG3-cre)1Herr/0	involves: 129 * C57BL/6J	MGI:6887647
cn15	Dicer1^tm1Bdh/Dicer1^tm1Bdh Tg(Prrx1-cre)1Cjt/0	involves: 129 * C57BL/6J * SJL/J	MGI:3589871
cn16	Dicer1^tm1Bdh/Dicer1^tm1Bdh Sox1^tm1(cre)Take/Sox1⁺	involves: 129 * C57BL/6NCrlj * CBA/JNCrlj	MGI:6156401
cn17	Dicer1^tm1Bdh/Dicer1^tm1Bdh Tg(Chx10-EGFP/cre,-ALPP)2Clc/0	involves: 129 * C57BL/6 * SJL	MGI:6383080
cn18	Dicer1^tm1Bdh/Dicer1⁺ Tg(Chx10-EGFP/cre,-ALPP)2Clc/0	involves: 129 * C57BL/6 * SJL	MGI:6383085
cn19	Dicer1^tm1Bdh/Dicer1^tm1Bdh Tg(Foxp3-EGFP/icre)1aJbs/0	involves: 129 * NOD/ShiLt	MGI:3809798
cn20	Dicer1^tm1Bdh/Dicer1^tm1Bdh Foxp3^{tm4(YFP/icre)Ayr}/Y	involves: 129S1/Sv * 129X1/SvJ	MGI:3806255
cn21	Dicer1^tm1Bdh/Dicer1^tm1Bdh Foxp3^{tm4(YFP/icre)Ayr}/Foxp3^{tm4(YFP/icre)Ayr}	involves: 129S1/Sv * 129X1/SvJ	MGI:3806256
cn22	Bcl2l11^tm1Ast/Bcl2l11^tm1Ast Dicer1^tm1Bdh/Dicer1^tm1Bdh Aicda^tm1(cre)Njen/Aicda⁺	involves: 129S1/Sv * C57BL/6	MGI:5315121
cn23	Dicer1^tm1Bdh/Dicer1^tm1Bdh Defb41^{tm1(icre)Psip}/Defb41⁺	involves: 129S6/SvEvTac * C57BL/6N	MGI:5439018
cn24	Dicer1^tm1Bdh/Dicer1^tm1Bdh Plekha5^{Tg(AMH-cre)1Flor}/Plekha5⁺	involves: 129/Sv * C57BL/6 * SJL	MGI:4360936

Allelic Composition	Dicer1^tm1Bdh/Dicer1^tm1Bdh Tg(Pax2-cre)1Akg/0
Genetic Background	involves: 129

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dicer1^tm1Bdh mutation (4 available); any Dicer1 mutation (94 available)
Tg(Pax2-cre)1Akg mutation (2 available)

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

mortality/aging

lethality throughout fetal growth and development ( J:200017 )

• mice exhibit late embryonic lethality at E18.5

craniofacial

abnormal craniofacial morphology ( J:200017 )

• at E17.5, mice exhibit severe craniofacial dysmorphism, including a secondary palatal cleft

• however, orofacial development is not affected prior to E11.5

abnormal craniofacial bone morphology ( J:200017 )

• at E17.5, mice show complete loss or abrogated development of several cranial neural crest cell (CNC)-derived bones in the viscerocranium, anterior cranial vault, and prechordal skull base

• in contrast, mesoderm-derived skeletal elements of the posterior skull, including the parietal, intraparietal, petrous temporal, basioccipital, exoccipital and supraoccipital, are normal

abnormal basicranium morphology ( J:200017 )

• at E17.5, the presphenoid, alisphenoid, and orbitosphenoid were absent from the cranial base

abnormal basisphenoid bone morphology ( J:200017 )

• at E17.5, the basisphenoid of the cranial base shows impaired growth

abnormal frontal bone morphology ( J:200017 )

• at E17.5, the medial portion of the frontal bones in the calvaria shows impaired growth

frontal bossing ( J:200017 )

• slight frontal bossing at E17.5

absent alisphenoid bone ( J:200017 )

• at E17.5, the alisphenoid is absent

absent orbitosphenoid bone ( J:200017 )

• at E17.5, the orbitosphenoid is absent

absent presphenoid bone ( J:200017 )

• at E17.5, the presphenoid is absent

absent temporal bone squamous part ( J:200017 )

• at E17.5, the squamosal bone is absent

small neurocranium ( J:200017 )

• reduction in cranial vault size at E17.5

shallow orbits ( J:200017 )

• shallow orbits at E17.5

small mandible ( J:200017 )

• at E17.5, the mandible is reduced in size

abnormal maxillary frontal process morphology ( J:200017 )

• at E17.5, the frontal process of the maxilla is reduced in size

micrognathia ( J:200017 )

• micrognathia at E17.5

absent palatine bone ( J:200017 )

• at E17.5, the palatine bones of the maxilla are absent

small vomer bone ( J:200017 )

• at E17.5, the vomer is reduced in size

absent zygomatic bone ( J:200017 )

• at E17.5, the jugal (zygoma) bone is absent

abnormal craniofacial development ( J:200017 )

• at E11.5, apoptotic (ApopTag+) cells are detected throughout the orofacial region, esp. in the developing palatal areas

• however, ApopTag+ cells are not observed in the palatal region at E17.5

abnormal secondary palate development ( J:200017 )

• at E17.5, the presumptive secondary palate shows only limited mesenchymal condensation and a complete absence of mineralization in the truncated palatal shelves

• secondary palate development is arrested prior to mineralization around E13.5, with a significant increase in the expression levels of apoptotic markers Caspase 3 and Trp53 in palatal tissue esp. at E13.5

• expression levels for senescence marker Cdkn1a (p21) are increased at E11.5 and E13.5

• however, primary palate development and the initial stages of secondary palate formation appear unaffected

abnormal palatal shelf morphology ( J:200017 )

• at E16.5, palatal shelves exhibit arrested growth, remaining vertically oriented in position and are morphologically similar to the shelves of an E13.5 wild-type embryo

abnormal palatal shelf bone ossification ( J:200017 )

• at E16.5, intramembranous ossification is completely absent in the palatal shelf region

• in contrast, the nasal septal cartilage, which develops from the Pax2-Cre-negative frontonasal region, is present

failure of palatal shelf elevation ( J:200017 )

• at E16.5, palatal shelves remain vertically oriented in position

palatal shelves fail to meet at midline ( J:200017 )

decreased palatal shelf size ( J:200017 )

• at ~E13.5, palatal shelves are vertically positioned along the side of the tongue but show a slight reduction in size

midface hypoplasia ( J:200017 )

• midface hypoplasia at E17.5

cleft secondary palate ( J:200017 )

• complete cleft of the secondary palate at E16.5 and E17.5

growth/size/body

frontal bossing ( J:200017 )

• slight frontal bossing at E17.5

abnormal secondary palate development ( J:200017 )

• at E17.5, the presumptive secondary palate shows only limited mesenchymal condensation and a complete absence of mineralization in the truncated palatal shelves

• expression levels for senescence marker Cdkn1a (p21) are increased at E11.5 and E13.5

• however, primary palate development and the initial stages of secondary palate formation appear unaffected

abnormal palatal shelf morphology ( J:200017 )

• at E16.5, palatal shelves exhibit arrested growth, remaining vertically oriented in position and are morphologically similar to the shelves of an E13.5 wild-type embryo

abnormal palatal shelf bone ossification ( J:200017 )

• at E16.5, intramembranous ossification is completely absent in the palatal shelf region

• in contrast, the nasal septal cartilage, which develops from the Pax2-Cre-negative frontonasal region, is present

failure of palatal shelf elevation ( J:200017 )

• at E16.5, palatal shelves remain vertically oriented in position

palatal shelves fail to meet at midline ( J:200017 )

decreased palatal shelf size ( J:200017 )

• at ~E13.5, palatal shelves are vertically positioned along the side of the tongue but show a slight reduction in size

midface hypoplasia ( J:200017 )

• midface hypoplasia at E17.5

cleft secondary palate ( J:200017 )

• complete cleft of the secondary palate at E16.5 and E17.5

digestive/alimentary system

abnormal secondary palate development ( J:200017 )

• at E17.5, the presumptive secondary palate shows only limited mesenchymal condensation and a complete absence of mineralization in the truncated palatal shelves

• expression levels for senescence marker Cdkn1a (p21) are increased at E11.5 and E13.5

• however, primary palate development and the initial stages of secondary palate formation appear unaffected

abnormal palatal shelf morphology ( J:200017 )

• at E16.5, palatal shelves exhibit arrested growth, remaining vertically oriented in position and are morphologically similar to the shelves of an E13.5 wild-type embryo

abnormal palatal shelf bone ossification ( J:200017 )

• at E16.5, intramembranous ossification is completely absent in the palatal shelf region

• in contrast, the nasal septal cartilage, which develops from the Pax2-Cre-negative frontonasal region, is present

failure of palatal shelf elevation ( J:200017 )

• at E16.5, palatal shelves remain vertically oriented in position

palatal shelves fail to meet at midline ( J:200017 )

decreased palatal shelf size ( J:200017 )

• at ~E13.5, palatal shelves are vertically positioned along the side of the tongue but show a slight reduction in size

cleft secondary palate ( J:200017 )

• complete cleft of the secondary palate at E16.5 and E17.5

skeleton

abnormal craniofacial bone morphology ( J:200017 )

• at E17.5, mice show complete loss or abrogated development of several cranial neural crest cell (CNC)-derived bones in the viscerocranium, anterior cranial vault, and prechordal skull base

• in contrast, mesoderm-derived skeletal elements of the posterior skull, including the parietal, intraparietal, petrous temporal, basioccipital, exoccipital and supraoccipital, are normal

abnormal basicranium morphology ( J:200017 )

• at E17.5, the presphenoid, alisphenoid, and orbitosphenoid were absent from the cranial base

abnormal basisphenoid bone morphology ( J:200017 )

• at E17.5, the basisphenoid of the cranial base shows impaired growth

abnormal frontal bone morphology ( J:200017 )

• at E17.5, the medial portion of the frontal bones in the calvaria shows impaired growth

frontal bossing ( J:200017 )

• slight frontal bossing at E17.5

absent alisphenoid bone ( J:200017 )

• at E17.5, the alisphenoid is absent

absent orbitosphenoid bone ( J:200017 )

• at E17.5, the orbitosphenoid is absent

absent presphenoid bone ( J:200017 )

• at E17.5, the presphenoid is absent

absent temporal bone squamous part ( J:200017 )

• at E17.5, the squamosal bone is absent

small neurocranium ( J:200017 )

• reduction in cranial vault size at E17.5

shallow orbits ( J:200017 )

• shallow orbits at E17.5

small mandible ( J:200017 )

• at E17.5, the mandible is reduced in size

abnormal maxillary frontal process morphology ( J:200017 )

• at E17.5, the frontal process of the maxilla is reduced in size

micrognathia ( J:200017 )

• micrognathia at E17.5

absent palatine bone ( J:200017 )

• at E17.5, the palatine bones of the maxilla are absent

small vomer bone ( J:200017 )

• at E17.5, the vomer is reduced in size

absent zygomatic bone ( J:200017 )

• at E17.5, the jugal (zygoma) bone is absent

vision/eye

absent orbitosphenoid bone ( J:200017 )

• at E17.5, the orbitosphenoid is absent

shallow orbits ( J:200017 )

• shallow orbits at E17.5

exophthalmos ( J:200017 )

• exophthalmos due to shallow orbits at E17.5

absent eyelids ( J:200017 )

• absence of eyelid formation at E17.5

nervous system

intracerebral hemorrhage ( J:200017 )

• slight cerebral hemorrhage at E17.5

hearing/vestibular/ear

decreased tympanic ring size ( J:200017 )

• at E17.5, the tympanic ring is reduced in size

cellular

decreased cell proliferation ( J:200017 )

• at E11.5, the total number of EdU+ cells are markedly reduced in the region of the developing brain and first pharyngeal arch

cardiovascular system

intracerebral hemorrhage ( J:200017 )

• slight cerebral hemorrhage at E17.5

Allelic Composition	Dicer1^tm1Bdh/Dicer1^tm1Bdh Amhr2^tm3(cre)Bhr/Amhr2⁺
Genetic Background	involves: 129

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Amhr2^tm3(cre)Bhr mutation (1 available); any Amhr2 mutation (27 available)
Dicer1^tm1Bdh mutation (4 available); any Dicer1 mutation (94 available)

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

reproductive system

reproductive system phenotype ( J:142113 )

N	• mutant females display normal estrous cycles and mating behavior relative to control littermates

decreased ovary weight ( J:142113 )

• adult day-1 pregnant female mutants display reduced ovarian weights relative to age-matched control littermates

abnormal oviduct morphology ( J:142113 )

• unlike wild-type, mutant oviducts lack extensive coiling and appear more transparent under a dissecting microscope

• distended sac-like structures filled with clear fluid are observed at the end of the oviduct near the uterotubal junction

• oviducts of both immature and pregnant female mutants rupture easily, do not appear patent, and cannot be flushed

• mutant oviducts display a disorganized epithelial cell layer while the isthmus region is almost devoid of smooth muscle tissue

short oviduct ( J:142113 )

• both untreated and eCG+hCG-treated immature (day 25) and adult day-1 pregnant female mutants display shorter oviducts that are less than one half the length of control littermates

abnormal uterus morphology ( J:142113 )

• mutant uteri appear more transparent than control uteri under a dissecting microscope

decreased endometrial gland number ( J:142113 )

• both eCG+hCG-treated immature and adult pregnant female mutants exhibit reduced numbers of uterine glands relative to control littermates

thin myometrium ( J:142113 )

• both eCG+hCG-treated immature and adult pregnant female mutants display a thinner myometrial layer relative to control littermates

short uterine horn ( J:142113 )

• both untreated and eCG+hCG-treated immature (day 25) female mutants show a significant reduction in the length and diameter of uterine horns relative to control littermates

small uterus ( J:142113 )

• mutant uteri are hypotrophic, approximately two thirds the length of control littermates, and contain much less smooth muscle

decreased uterus weight ( J:142113 )

• adult day-1 pregnant female mutants display reduced uterine weights relative to age-matched control littermates

abnormal oviduct transport ( J:142113 )

• unlike embryos developing in wild-type females, embryos in mutant females fail to enter the uterus on day 4 of pregnancy, indicating disruption of oviductal transport; most are found in the upper one third of the oviduct instead of the uterus

• only a few embryos progress through the oviduct to the isthmus; however, these are mostly fragmented and some zonae pellucidae are lost

• in contrast, in vitro cultured pronuclear (day-1) embryos collected from mutant donors develop at a similar rate as those derived from wild-type females

decreased ovulation rate ( J:142113 )

• female mutants exhibit decreased numbers of naturally ovulated cumulus-oocyte complexes relative to control littermates

decreased superovulation rate ( J:142113 )

• immature eCG+hCG-treated female mutants display a reduced ovulation rate relative to similarly treated wild-type females

• immature mutant females given eCG alone (46 hrs) exhibit fewer large antral follicles in their ovaries than similarly treated control littermates

abnormal pregnancy ( J:142113 )

• embryos collected from mutant females on day-3 of pregnancy appear developmentally delayed relative to control embryos

• embryos collected from mutant females on day-4 of pregnancy exhibit increased fragmentation and degeneration relative to control embryos

• however, in vitro fertilized oocytes derived from mutant donor mice are able to establish a pregnancy in wild-type recipients with normal fetal development up to at least E15

failure of embryo implantation ( J:142113 )

• at day-6 and -7 of pregnancy, mutant females exhibit no evidence of implantation; in contrast, all wild-type females display 9.8 0.4 implantation sites per dam

female infertility ( J:142113 )

• mutant females fail to produce any offspring over a 5-month breeding period with adult wild-type males of known fertility

• in contrast, male mutants are able to sire multiple litters with wild-type females

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:142113 )

N	• eCG+hCG-treated immature female mutants show no significant changes in estrogen levels relative to control littermates

decreased circulating progesterone level ( J:142113 )

• on day-6 of pregnancy, mutant females show a slight (24%) decrease in serum progesterone levels relative to controls

• however, no significant changes in serum progesterone concentrations are noted through day-4 of pregnancy

endocrine/exocrine glands

decreased endometrial gland number ( J:142113 )

• both eCG+hCG-treated immature and adult pregnant female mutants exhibit reduced numbers of uterine glands relative to control littermates

decreased ovary weight ( J:142113 )

• adult day-1 pregnant female mutants display reduced ovarian weights relative to age-matched control littermates

Allelic Composition	Dicer1^tm1Bdh/Dicer1^tm1Bdh Shh^{tm1(EGFP/cre)Cjt}/Shh⁺
Genetic Background	involves: 129

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dicer1^tm1Bdh mutation (4 available); any Dicer1 mutation (94 available)
Shh^{tm1(EGFP/cre)Cjt} mutation (1 available); any Shh mutation (45 available)

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

mortality/aging

perinatal lethality, complete penetrance ( J:106072 )

• mice die at birth

respiratory system

abnormal lung development ( J:106072 )

• at E12.5, fewer branches are observed and the distal tips of the newly formed branches appear dilated

• the number of dilated branching tips observed at E12.5 corresponds to the number of large, fluid-filled sacs seen at E15.5

• defective branching morphogenesis occurs prior to the increased cell death seen in the distal epithelium at E13.0

• at E11.75, expression of Fgf10 (a key gene involved in lung development) is already up-regulated and expanded in the mesenchyme of mutant lungs

abnormal lung epithelium morphology ( J:106072 )

• at E15.5, mutant lung epithelial cells form large, fluid-filled sacs within each lobe, indicating a severe branching defect

• at E15.5, the mutant epithelium is often detached from the mesenchyme, unlike in control lungs

• at E12.25, increased epithelial cell death is ectopically observed in the secondary bronchi of mutant lungs in addition to the normal pattern of cell death seen in the trachea and primary bronchi

• at E12.5 and E12.75, intense epithelial cell death is prolonged in the mutant trachea and bronchi, unlike in control and wild type lungs

• by E13.0, aberrant cell death is observed in the entire mutant lung epithelium, including the distal branching region, but not in the mesenchyme

small lung lobe ( J:106072 )

• after E13.5, each mutant lung lobe is proportionally smaller than that in control lungs

• however, each lobe maintains a normal shape, indicating a normal lobation pattern

Allelic Composition	Dicer1^tm1Bdh/Dicer1^tm1Bdh Hprt1^{tm1(Pck1-cre)Vhh}/Y
Genetic Background	involves: 129 * 129P2/OlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dicer1^tm1Bdh mutation (4 available); any Dicer1 mutation (94 available)
Hprt1^{tm1(Pck1-cre)Vhh} mutation (0 available); any Hprt1 mutation (1273 available)

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

renal/urinary system

renal/urinary system phenotype ( J:185838 )

N	• mice exhibit normal kidney size, renal histology, and renal function throughout a 6-month observation period • at 8-10 weeks of age, BUN levels and serum creatinine levels are normal relative to those in wild-type controls

decreased susceptibility to kidney reperfusion injury ( J:185838 )

• following bilateral kidney ischemia/reperfusion injury, mice exhibit decreased creatinine plasma levels, significantly less cortical and outer medulla tubular damage, lower tubular apoptosis, and improved survival relative to wild-type controls

homeostasis/metabolism

decreased susceptibility to kidney reperfusion injury ( J:185838 )

Allelic Composition	Dicer1^tm1Bdh/Dicer1^tm1Bdh Nkx2-5^tm2(cre)Rph/Nkx2-5⁺
Genetic Background	involves: 129 * 129S1/Sv

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dicer1^tm1Bdh mutation (4 available); any Dicer1 mutation (94 available)
Nkx2-5^tm2(cre)Rph mutation (1 available); any Nkx2-5 mutation (21 available)

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:156467 )

• embryos are present at Mendelian ratios up to E13.5, but fail to survive past E13.7; only 10% are recovered at E13.7-E14.0 and those found alive are close to expiration

cardiovascular system

thin ventricle myocardium compact layer ( J:156467 )

• a thin, improperly compacted ventricular myocardium is observed at E13.0

• however, no significant increase in cell death is noted in the abnormal myocardium

abnormal cardiac outflow tract development ( J:156467 )

• mRNA levels of Pitx2 (critical in the establishment of OFT positioning relative to the ventricles) are upregulated in the OFT and adjacent ventricular wall starting from E10.25 and as late as E13.0

• mRNA expression of Sema3c is upregulated in the OFT and adjacent ventricular wall starting at E12.5

• mesenchymal apoptosis is significantly reduced in the OFT at E13.0 and E13.5, but not at E12.5 or earlier; a ~5-fold decrease in mesenchymal cell death is noted in the OFT at E12.75-E13.0

• however, no change in cell proliferation is detected at E12.0, E12.5 or E13.0

double outlet right ventricle ( J:156467 )

• by E13.0-E13.5, fifteen of 19 (79%) of hearts exhibit DORV with a concurrent ventricular septal defect (VSD)

ventricular septal defect ( J:156467 )

• by E13.0-E13.5, fifteen of 19 (79%) of hearts exhibit DORV with a concurrent VSD

muscle

thin ventricle myocardium compact layer ( J:156467 )

• a thin, improperly compacted ventricular myocardium is observed at E13.0

• however, no significant increase in cell death is noted in the abnormal myocardium

Allelic Composition	Dicer1^tm1Bdh/Dicer1⁺ Yy1^tm2.1Yshi/Yy1⁺ Shh^{tm1(EGFP/cre)Cjt}/Shh⁺
Genetic Background	involves: 129 * 129S4/SvJae * C57BL/6

Find Mice

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

respiratory system

respiratory system phenotype ( J:239777 )

N	• embryos do not present lung defects

Allelic Composition	Dicer1^tm1Bdh/Dicer1^tm1Bdh Nkx2-5^tm1(cre)Rjs/Nkx2-5⁺
Genetic Background	involves: 129 * 129S7/SvEvBrd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dicer1^tm1Bdh mutation (4 available); any Dicer1 mutation (94 available)
Nkx2-5^tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (21 available)

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:211548 )

• embryos die by E12.5

cardiovascular system

abnormal myocardium layer morphology ( J:211548 )

• poorly developed

pericardial edema ( J:211548 )

• by E12.5

abnormal cardiovascular system physiology ( J:211548 )

• embryos die at E12.5 from cardiac failure

homeostasis/metabolism

pericardial edema ( J:211548 )

• by E12.5

muscle

abnormal myocardium layer morphology ( J:211548 )

• poorly developed

Allelic Composition	Dicer1^tm1Bdh/Dicer1^tm1Bdh Aicda^tm1(cre)Njen/Aicda⁺
Genetic Background	involves: 129 * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aicda^tm1(cre)Njen mutation (0 available); any Aicda mutation (55 available)
Dicer1^tm1Bdh mutation (4 available); any Dicer1 mutation (94 available)

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

immune system

immune system phenotype ( J:181782 )

N	• before immunization, mice have normal B-cell subsets in the bone marrow, spleen, lymph nodes, and peritoneal cavities

decreased germinal center B cell number ( J:181782 )

• significantly decreased numbers (6- to 10 fold) of germinal center (GC) B cells are present in the spleen at day 10 after immunization

• drastic reductions in GC B cell populations in Peyer patches and mesenteric lymph nodes are also observed

absent memory B cells ( J:181782 )

• NP-specific memory B (IgG1) cells are essentially absent from spleens of mice 56 days after primary immunization with NP-CGG

absent plasma cells ( J:181782 )

• NP-specific IgG1 antibody-secreting cells (ASCs) are absent from the bone marrow at 56 days after primary immunization with NP-CGG

abnormal germinal center B cell physiology ( J:181782 )

• at 10 days after immunization, numbers of proliferating GC B cells are 3- to 5-fold lower than in wild-type, suggesting impaired proliferative capacity

• GC B cells are mores susceptible to cell death; numbers of apoptotic cells are 30 to 50% higher than in controls at day 10 after immunization

abnormal humoral immune response ( J:181782 )

• upon immunization with a T cell dependent antigen (NP-CGG), mice display normal levels of NP-specific IgM antibodies at 14, 21, and 28 days following exposure, while NP-specific IgG1, IgGb and IgG3 antibody titers are drastically reduced

decreased immunoglobulin level ( J:181782 )

• mice have lower basal serum levels of IgG1, IgG2b, IgG3, and IgA compared to wild-type

• IgM level is normal

hematopoietic system

decreased germinal center B cell number ( J:181782 )

• significantly decreased numbers (6- to 10 fold) of germinal center (GC) B cells are present in the spleen at day 10 after immunization

• drastic reductions in GC B cell populations in Peyer patches and mesenteric lymph nodes are also observed

absent memory B cells ( J:181782 )

• NP-specific memory B (IgG1) cells are essentially absent from spleens of mice 56 days after primary immunization with NP-CGG

absent plasma cells ( J:181782 )

• NP-specific IgG1 antibody-secreting cells (ASCs) are absent from the bone marrow at 56 days after primary immunization with NP-CGG

abnormal germinal center B cell physiology ( J:181782 )

• at 10 days after immunization, numbers of proliferating GC B cells are 3- to 5-fold lower than in wild-type, suggesting impaired proliferative capacity

• GC B cells are mores susceptible to cell death; numbers of apoptotic cells are 30 to 50% higher than in controls at day 10 after immunization

decreased immunoglobulin level ( J:181782 )

• mice have lower basal serum levels of IgG1, IgG2b, IgG3, and IgA compared to wild-type

• IgM level is normal

Allelic Composition	Dicer1^tm1Bdh/Dicer1^tm1Bdh Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
Genetic Background	involves: 129 * C57BL/6 * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dicer1^tm1Bdh mutation (4 available); any Dicer1 mutation (94 available)
Edil3^{Tg(Sox2-cre)1Amc} mutation (5 available); any Edil3 mutation (42 available)

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

embryo

spina bifida ( J:244791 )

• observed at E8.5

nervous system

spina bifida ( J:244791 )

• observed at E8.5

Allelic Composition	Dicer1^tm1Bdh/Dicer1^tm1Bdh Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background	involves: 129 * C57BL/6 * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dicer1^tm1Bdh mutation (4 available); any Dicer1 mutation (94 available)
Tg(CAG-cre/Esr1*)5Amc mutation (9 available)

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

muscle

impaired skeletal muscle regeneration ( J:292144 )

• lower mean of regenerating myofiber cross-sectional area of tibialis anterior (TA) muscle 14 days after intramuscular injection of cardiotoxin (CTX), after induction of knockout with tamoxifen

• normal number of satellite cells and normal primary myoblast differentiation and viability after induction of knockout with tamoxifen

Allelic Composition	Dicer1^tm1Bdh/Dicer1⁺ H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
Genetic Background	involves: 129 * C57BL/6 * CBA/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dicer1^tm1Bdh mutation (4 available); any Dicer1 mutation (94 available)
H2az2^{Tg(Wnt1-cre)11Rth} mutation (2 available); any H2az2 mutation (26 available)

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

hematopoietic system

abnormal thymus development ( J:166758 )

• thymus development is delayed at E14.5, but by E16.5, the thymus is indistinguishable from wild-type

immune system

abnormal thymus development ( J:166758 )

• thymus development is delayed at E14.5, but by E16.5, the thymus is indistinguishable from wild-type

endocrine/exocrine glands

abnormal thymus development ( J:166758 )

• thymus development is delayed at E14.5, but by E16.5, the thymus is indistinguishable from wild-type

Allelic Composition	Dicer1^tm1Bdh/Dicer1^tm1Bdh H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
Genetic Background	involves: 129 * C57BL/6 * CBA/J

Find Mice

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:166758 )

• die soon after E16.5

cardiovascular system

abnormal aortic arch development ( J:166758 )

• discontinuance of the ascending aortic arch with the descending aorta, indicating improper pattering of the aortic arch due to a left fourth aortic arch defect

persistent truncus arteriosus ( J:166758 )

• the outflow tract does not fully septate into a pulmonary artery and aorta in some cases, resulting in the persistence of a common outflow vessel

ventricular septal defect ( J:166758 )

craniofacial

abnormal craniofacial morphology ( J:166758 )

• severe craniofacial defects are seen by E14.5

abnormal first pharyngeal arch morphology ( J:166758 )

• although pharyngeal arches appear similar to wild-type in emergence, size and shape, expression of Dlx2 and Fgf8 are downregulated in pharyngeal arch 1

• apoptosis is increased in the first pharyngeal arch at E11.5

embryo

abnormal first pharyngeal arch morphology ( J:166758 )

• although pharyngeal arches appear similar to wild-type in emergence, size and shape, expression of Dlx2 and Fgf8 are downregulated in pharyngeal arch 1

• apoptosis is increased in the first pharyngeal arch at E11.5

hematopoietic system

athymia ( J:166758 )

• thymus development is absent

immune system

athymia ( J:166758 )

• thymus development is absent

nervous system

abnormal sympathetic ganglion morphology ( J:166758 )

• loss of neural crest cell derived neuronal tissue from the thoracic sympathetic ganglia

abnormal dorsal root ganglion morphology ( J:166758 )

• loss of neural crest cell derived neuronal tissue from the dorsal root ganglia

skeleton

abnormal cartilage morphology ( J:166758 )

• neural crest cell derived maxillary and mandibular regions of the face and frontonasal process lack cartilaginous tissue, however mesodermally derived cartilage near the base of the skull is present

endocrine/exocrine glands

athymia ( J:166758 )

• thymus development is absent

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
DiGeorge syndrome		DOID:11198	OMIM:188400	J:166758

Allelic Composition	Dicer1^tm1Bdh/Dicer1^tm1Bdh Tg(Cd4-cre)1Cwi/0
Genetic Background	involves: 129 * C57BL/6 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dicer1^tm1Bdh mutation (4 available); any Dicer1 mutation (94 available)
Tg(Cd4-cre)1Cwi mutation (10 available)

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

hematopoietic system

decreased regulatory T cell number ( J:138683 )

• mature peripheral T reg cells are reduced in frequency

immune system

decreased regulatory T cell number ( J:138683 )

• mature peripheral T reg cells are reduced in frequency

Allelic Composition	Dicer1^tm1Bdh/Dicer1^tm1Bdh Tg(NEUROG3-cre)1Herr/0
Genetic Background	involves: 129 * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dicer1^tm1Bdh mutation (4 available); any Dicer1 mutation (94 available)
Tg(NEUROG3-cre)1Herr mutation (1 available)

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

reproductive system

teratozoospermia ( J:177677 )

• only very few cauda epididymal sperm appear normal: EM showed small abnormally shaped nuclei, bending of tails from the neck region, and excess of cytoplasm

abnormal sperm flagellum morphology ( J:177677 )

• cauda epididymal sperm show tail anomalies, including thin tails and disorganized accessory structures

thin sperm flagellum ( J:177677 )

abnormal sperm midpiece morphology ( J:177677 )

abnormal sperm mitochondrial sheath morphology ( J:177677 )

• some epididymal sperm tails exhibit a mislocalized mitochondrial sheath

absent sperm mitochondrial sheath ( J:177677 )

• some epididymal sperm tails show absence of the mitochondrial sheath

absent sperm fibrous sheath ( J:177677 )

• many epididymal sperm tails lack a detectable anti-AKAP4-positive fibrous sheath

kinked sperm flagellum ( J:177677 )

• some epididymal sperm show bending of tails from the neck region

abnormal sperm head morphology ( J:177677 )

• cauda epididymal sperm show defective head structures including small heads and abnormal head shapes

abnormal acrosome morphology ( J:177677 )

• fragmented acrosomes and abnormal acrosomal vacuoles are frequently observed and Golgi complexes appear remarkably prominent in round spermatids

abnormal sperm nucleus morphology ( J:177677 )

• several pin-head spermatozoa with tubulin-positive thin tails but no DAPI-positive nuclei are detected

• EM of epididymal sperm showed small abnormally shaped nuclei

• however, some germ cells are able to undergo condensation as shown by the presence of condensed nuclei among both testicular elongating spermatids and mature sperm

small sperm head ( J:177677 )

• epididymal sperm show small abnormal heads that are frequently bent over the tail

pinhead sperm ( J:177677 )

• pin-head sperm with tubulin-positive axonemal structures but no DAPI-positive heads are frequently detected

abnormal spermatid morphology ( J:177677 )

• spermatid elongation is severely disrupted; only very few normal step 15-16 spermatids are detected

• nearly all late spermatids exhibit abnormal head shape and chromatin condensation and a disrupted organization of tail accessory structures including a disorganized midpiece

• step 9 spermatids show defective polarization of the head, with H1T2 (a testis-specific histone H1 variant) no longer polarized underneath the developing acrosome; instead, H1T2 shows a bipolar localization pattern at both the apical and basal side of the nucleus

• condensed elongating spermatids show defects in head shaping, disorganized manchettes and abnormal bending of the head

abnormal manchette morphology ( J:177677 )

• step 9-12 elongating spermatids display a disorganized manchette

ectopic manchette ( J:177677 )

• anti-tubulin staining revealed that the manchette is distributed more randomly in the cytoplasm of elongating spermatids, often surrounding the whole nucleus

decreased male germ cell number ( J:177677 )

• at 8 weeks of age, the number of haploid germ cells is lower than that in control testis (53% versus 74.7%)

oligozoospermia ( J:177677 )

• number of mature spermatozoa is drastically reduced in the cauda epididymis

increased male germ cell apoptosis ( J:177677 )

• at 8 weeks of age, TUNEL staining revealed an increased number of apoptotic spermatocytes in the seminiferous tubules both at stages XII-I and at stages IV-V

small testis ( J:177677 )

• adult testis size is ~50% smaller than that in control males

abnormal spermiogenesis ( J:177677 )

• at 8 weeks of age, stage VII-VIII seminiferous tubules show a severe disruption in spermatid elongation, as determined by the amount, organization and nuclear morphology of elongating spermatids

• stages of the seminiferous epithelial cycle are often disorganized with haploid cells from different developmental stages being mixed in the same cross sections

• arrest in spermatid elongation appears to occur before initiation of nuclear condensation, as indicated by the high number of uncondensed elongating spermatids, presence of hyperacetylated H3-positive elongating spermatids in all the stages of seminiferous epithelial cycle, and low number of protamine-positive nuclei

• however, spermatogonia and early meiotic cells appear normal and overall organization of Sertoli and germ cells in the seminiferous epithelium is unaffected

abnormal epididymis morphology ( J:177677 )

• numerous exfoliated immature germ cells are frequently found in the epididymal lumen

male infertility ( J:177677 )

• adult males fail to sire pups after mating with wild-type females

cellular

teratozoospermia ( J:177677 )

• only very few cauda epididymal sperm appear normal: EM showed small abnormally shaped nuclei, bending of tails from the neck region, and excess of cytoplasm

abnormal sperm flagellum morphology ( J:177677 )

• cauda epididymal sperm show tail anomalies, including thin tails and disorganized accessory structures

thin sperm flagellum ( J:177677 )

abnormal sperm midpiece morphology ( J:177677 )

abnormal sperm mitochondrial sheath morphology ( J:177677 )

• some epididymal sperm tails exhibit a mislocalized mitochondrial sheath

absent sperm mitochondrial sheath ( J:177677 )

• some epididymal sperm tails show absence of the mitochondrial sheath

absent sperm fibrous sheath ( J:177677 )

• many epididymal sperm tails lack a detectable anti-AKAP4-positive fibrous sheath

kinked sperm flagellum ( J:177677 )

• some epididymal sperm show bending of tails from the neck region

abnormal sperm head morphology ( J:177677 )

• cauda epididymal sperm show defective head structures including small heads and abnormal head shapes

abnormal acrosome morphology ( J:177677 )

• fragmented acrosomes and abnormal acrosomal vacuoles are frequently observed and Golgi complexes appear remarkably prominent in round spermatids

abnormal sperm nucleus morphology ( J:177677 )

• several pin-head spermatozoa with tubulin-positive thin tails but no DAPI-positive nuclei are detected

• EM of epididymal sperm showed small abnormally shaped nuclei

• however, some germ cells are able to undergo condensation as shown by the presence of condensed nuclei among both testicular elongating spermatids and mature sperm

small sperm head ( J:177677 )

• epididymal sperm show small abnormal heads that are frequently bent over the tail

pinhead sperm ( J:177677 )

• pin-head sperm with tubulin-positive axonemal structures but no DAPI-positive heads are frequently detected

abnormal spermatid morphology ( J:177677 )

• spermatid elongation is severely disrupted; only very few normal step 15-16 spermatids are detected

• nearly all late spermatids exhibit abnormal head shape and chromatin condensation and a disrupted organization of tail accessory structures including a disorganized midpiece

• condensed elongating spermatids show defects in head shaping, disorganized manchettes and abnormal bending of the head

abnormal manchette morphology ( J:177677 )

• step 9-12 elongating spermatids display a disorganized manchette

ectopic manchette ( J:177677 )

• anti-tubulin staining revealed that the manchette is distributed more randomly in the cytoplasm of elongating spermatids, often surrounding the whole nucleus

decreased male germ cell number ( J:177677 )

• at 8 weeks of age, the number of haploid germ cells is lower than that in control testis (53% versus 74.7%)

oligozoospermia ( J:177677 )

• number of mature spermatozoa is drastically reduced in the cauda epididymis

abnormal Golgi apparatus morphology ( J:177677 )

• Golgi complexes appear remarkably prominent in round spermatids

increased male germ cell apoptosis ( J:177677 )

• at 8 weeks of age, TUNEL staining revealed an increased number of apoptotic spermatocytes in the seminiferous tubules both at stages XII-I and at stages IV-V

endocrine/exocrine glands

small testis ( J:177677 )

• adult testis size is ~50% smaller than that in control males

Allelic Composition	Dicer1^tm1Bdh/Dicer1^tm1Bdh Tg(Prrx1-cre)1Cjt/0
Genetic Background	involves: 129 * C57BL/6J * SJL/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dicer1^tm1Bdh mutation (4 available); any Dicer1 mutation (94 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)

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

limbs/digits/tail

forelimb oligodactyly ( J:100475 )

• forelimbs show loss of digits and some fusion of digits

abnormal forelimb morphology ( J:100475 )

• at E11 the forelimbs are smaller and at E12.5 the forelimb size resembles that of wild-type forelimbs at E11.5

• starting at E10.5 increased cell death is seen in the limb mesoderm

abnormal hindlimb morphology ( J:100475 )

• the hindlimbs are smaller but not as severely affected as the forelimbs

• starting at E12.5 increased cell death is seen in the limb mesoderm

skeleton

abnormal long bone morphology ( J:100475 )

• the long bones of the arms and legs appear twisted

delayed endochondral bone ossification ( J:100475 )

• bone formation from cartilage is delayed in the long bones of the limbs

Allelic Composition	Dicer1^tm1Bdh/Dicer1^tm1Bdh Sox1^tm1(cre)Take/Sox1⁺
Genetic Background	involves: 129 * C57BL/6NCrlj * CBA/JNCrlj

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dicer1^tm1Bdh mutation (4 available); any Dicer1 mutation (94 available)
Sox1^tm1(cre)Take mutation (1 available); any Sox1 mutation (13 available)

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

mortality/aging

perinatal lethality, complete penetrance ( J:244791 )

embryo

short rostral-caudal axis ( J:244791 )

Allelic Composition	Dicer1^tm1Bdh/Dicer1^tm1Bdh Tg(Chx10-EGFP/cre,-ALPP)2Clc/0
Genetic Background	involves: 129 * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dicer1^tm1Bdh mutation (4 available); any Dicer1 mutation (94 available)
Tg(Chx10-EGFP/cre,-ALPP)2Clc mutation (1 available)

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

vision/eye

abnormal retina layer morphology ( J:135193 )

• mice show progressive alteration and remodeling of the laminar retinal structure from P16 to P45

• however, no major defects in neuroepithelial cell polarity or in structure of adherens junctions are seen in immature retinas at P2

abnormal retina photoreceptor morphology ( J:135193 )

• mice show the formation of photoreceptor rosettes at P16 (circular structures comprising photoreceptors only that are oriented toward an internal lumen with photoreceptor outer segments protruding inward) that increase in number from P16 and P45 and decrease in size and eventually disappear by 3 months of age when degeneration of photoreceptors begins

• rosettes are scattered along the retinal outer surface and are composed of photoreceptors and their synaptic terminals

retina photoreceptor degeneration ( J:135193 )

• photoreceptors with rosettes degenerate as mice reach 3 months of age

thin retina outer nuclear layer ( J:135193 )

• the outer nuclear layer becomes progressively thinner; it is thinner in the peripheral compared with the central retina, indicating a periphery-to-central degenerative gradient

disorganized retina layers ( J:135193 )

• formation of photoreceptor rosettes at P16 progresses to more general cellular disorganization

increased susceptibility to age-related retinal degeneration ( J:135193 )

• widespread degeneration of retinal cell types with age

retina gliosis ( J:135193 )

• Muller cells become hypertrophic with radial processes increasing in size and GFAP reactivity increasing at later stages during when loss of retinal cells is occurring, indicating glial activation

decreased a-wave amplitude ( J:135193 )

• scotopic a wave amplitude is diminished at 1, 3, and 5 months of age

decreased b-wave amplitude ( J:135193 )

• scotopic and photopic b wave amplitudes are diminished

nervous system

abnormal retina photoreceptor morphology ( J:135193 )

• rosettes are scattered along the retinal outer surface and are composed of photoreceptors and their synaptic terminals

retina photoreceptor degeneration ( J:135193 )

• photoreceptors with rosettes degenerate as mice reach 3 months of age

Allelic Composition	Dicer1^tm1Bdh/Dicer1⁺ Tg(Chx10-EGFP/cre,-ALPP)2Clc/0
Genetic Background	involves: 129 * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dicer1^tm1Bdh mutation (4 available); any Dicer1 mutation (94 available)
Tg(Chx10-EGFP/cre,-ALPP)2Clc mutation (1 available)

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

vision/eye

vision/eye phenotype ( J:135193 )

N	• no morphological abnormalities are seen in the retina

decreased a-wave amplitude ( J:135193 )

• scotopic a wave amplitude is reduced at 1, 3, and 5 months of age

decreased b-wave amplitude ( J:135193 )

• scotopic and photopic b wave amplitudes are reduced at 1, 3, and 5 months of age

Allelic Composition	Dicer1^tm1Bdh/Dicer1^tm1Bdh Tg(Foxp3-EGFP/icre)1aJbs/0
Genetic Background	involves: 129 * NOD/ShiLt

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dicer1^tm1Bdh mutation (4 available); any Dicer1 mutation (94 available)
Tg(Foxp3-EGFP/icre)1aJbs mutation (1 available)

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

mortality/aging

premature death ( J:138808 )

• all mice die by 6-8 weeks of age

growth/size/body

weight loss ( J:138808 )

• aging animals display weight loss

enlarged spleen ( J:138808 )

• observed in all aging animals (>5 weeks of age)

behavior/neurological

abnormal behavior ( J:138808 )

• aging animals display reduced mobility

immune system

enlarged spleen ( J:138808 )

• observed in all aging animals (>5 weeks of age)

abnormal effector T cell morphology ( J:138808 )

• number of CTLA4-expressing CD4+ Foxp3- effector T cells increase to >50% of splenic and >70% of lymph node CD4+ T cells compared to <10% in wild-type littermates

abnormal regulatory T cell morphology ( J:138808 )

• T reg cells have a higher percentage of CD103+ T cells and greater number of CD62^lo cells

decreased regulatory T cell number ( J:138808 )

• percentage of regulatory T (T reg) cells in spleen and peripheral blood is reduced to 33% of controls

abnormal splenic cell ratio ( J:138808 )

• dramatic increase in splenic T cells is seen in 4-6 week old mice relative to controls

abnormal CD4-positive, alpha-beta T cell physiology ( J:138808 )

• many effector T cells have high levels of Il4, Il10 and interferon gamma, Ifng whereas <1% of cells from wild-type express Il4, Il10, Il17 or Ifng

abnormal regulatory T cell physiology ( J:138808 )

• CD4+ Foxp3+ T regs have a more prominent activated phenotype (increased expression of CD25, CTLA4 and glucocorticoid-induced TNFR)

abnormal lymph node cell ratio ( J:138808 )

• dramatic increase in lymph node T cells is seen in 4-6 week old mice; however percentage of regulatory T cells is maintained

enlarged lymph nodes ( J:138808 )

• observed in all aging animals (>5 weeks of age)

liver inflammation ( J:138808 )

• tissue displays extensive mononuclear cell infiltration

lung inflammation ( J:138808 )

• tissue displays extensive mononuclear cell infiltration

• tissue has dense predominantly peribronchovascular infiltrates, composed of CD4+ and Cd8+ T cells

hematopoietic system

enlarged spleen ( J:138808 )

• observed in all aging animals (>5 weeks of age)

abnormal effector T cell morphology ( J:138808 )

• number of CTLA4-expressing CD4+ Foxp3- effector T cells increase to >50% of splenic and >70% of lymph node CD4+ T cells compared to <10% in wild-type littermates

abnormal regulatory T cell morphology ( J:138808 )

• T reg cells have a higher percentage of CD103+ T cells and greater number of CD62^lo cells

decreased regulatory T cell number ( J:138808 )

• percentage of regulatory T (T reg) cells in spleen and peripheral blood is reduced to 33% of controls

abnormal splenic cell ratio ( J:138808 )

• dramatic increase in splenic T cells is seen in 4-6 week old mice relative to controls

abnormal CD4-positive, alpha-beta T cell physiology ( J:138808 )

• many effector T cells have high levels of Il4, Il10 and interferon gamma, Ifng whereas <1% of cells from wild-type express Il4, Il10, Il17 or Ifng

abnormal regulatory T cell physiology ( J:138808 )

• CD4+ Foxp3+ T regs have a more prominent activated phenotype (increased expression of CD25, CTLA4 and glucocorticoid-induced TNFR)

liver/biliary system

liver inflammation ( J:138808 )

• tissue displays extensive mononuclear cell infiltration

respiratory system

lung inflammation ( J:138808 )

• tissue displays extensive mononuclear cell infiltration

• tissue has dense predominantly peribronchovascular infiltrates, composed of CD4+ and Cd8+ T cells

skeleton

kyphosis ( J:138808 )

• seen in aging animals

Allelic Composition	Dicer1^tm1Bdh/Dicer1^tm1Bdh Foxp3^{tm4(YFP/icre)Ayr}/Y
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dicer1^tm1Bdh mutation (4 available); any Dicer1 mutation (94 available)
Foxp3^{tm4(YFP/icre)Ayr} mutation (2 available); any Foxp3 mutation (55 available)

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

mortality/aging

premature death ( J:138683 )

• males become ill at 2-3 weeks, exhibiting 100% mortality at <25 days

immune system

blood vessel inflammation ( J:138683 )

• cuffing around blood vessels by inflammatory cells in pancreas, kidney and skeletal muscle is observed

enlarged spleen ( J:138683 )

enlarged lymph nodes ( J:138683 )

liver inflammation ( J:138683 )

• large areas are infiltrated by inflammatory cells in moribund mice

lung inflammation ( J:138683 )

• large areas are infiltrated by inflammatory cells in moribund mice

hematopoietic system

enlarged spleen ( J:138683 )

cardiovascular system

blood vessel inflammation ( J:138683 )

• cuffing around blood vessels by inflammatory cells in pancreas, kidney and skeletal muscle is observed

liver/biliary system

liver inflammation ( J:138683 )

• large areas are infiltrated by inflammatory cells in moribund mice

respiratory system

lung inflammation ( J:138683 )

• large areas are infiltrated by inflammatory cells in moribund mice

growth/size/body

enlarged spleen ( J:138683 )

Allelic Composition	Dicer1^tm1Bdh/Dicer1^tm1Bdh Foxp3^{tm4(YFP/icre)Ayr}/Foxp3^{tm4(YFP/icre)Ayr}
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

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

mortality/aging

premature death ( J:138683 )

• females become ill at 2-3 weeks, exhibiting 100% mortality at <25 days

immune system

blood vessel inflammation ( J:138683 )

• cuffing around blood vessels by inflammatory cells in pancreas, kidney and skeletal muscle is observed

enlarged spleen ( J:138683 )

enlarged lymph nodes ( J:138683 )

liver inflammation ( J:138683 )

• large areas are infiltrated by inflammatory cells in moribund mice

lung inflammation ( J:138683 )

• large areas are infiltrated by inflammatory cells in moribund mice

hematopoietic system

enlarged spleen ( J:138683 )

cardiovascular system

blood vessel inflammation ( J:138683 )

• cuffing around blood vessels by inflammatory cells in pancreas, kidney and skeletal muscle is observed

liver/biliary system

liver inflammation ( J:138683 )

• large areas are infiltrated by inflammatory cells in moribund mice

respiratory system

lung inflammation ( J:138683 )

• large areas are infiltrated by inflammatory cells in moribund mice

growth/size/body

enlarged spleen ( J:138683 )

Allelic Composition	Bcl2l11^tm1Ast/Bcl2l11^tm1Ast Dicer1^tm1Bdh/Dicer1^tm1Bdh Aicda^tm1(cre)Njen/Aicda⁺
Genetic Background	involves: 129S1/Sv * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aicda^tm1(cre)Njen mutation (0 available); any Aicda mutation (55 available)
Bcl2l11^tm1Ast mutation (0 available); any Bcl2l11 mutation (32 available)
Dicer1^tm1Bdh mutation (4 available); any Dicer1 mutation (94 available)

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

immune system

abnormal B cell differentiation ( J:181782 )

• rescued germinal center B cells cannot effectively differentiate into antibody-secreting cells (AScs), and fail to differentiate into high affinity ASCs

decreased germinal center B cell number ( J:181782 )

• numbers are reduced in spleen relative to wild-type, but are dramatically increased on a Bcl2l11-deficient background compared to conditional knockouts with wild-type background

decreased plasma cell number ( J:181782 )

• NP-specific IgG1 antibody-secreting cells (ASCs) are present only at 20-25% of the numbers observed in wild-type spleens at day 12 after immunization

• high affinity ASCs are almost undetectable and bone marrow

hematopoietic system

abnormal B cell differentiation ( J:181782 )

• rescued germinal center B cells cannot effectively differentiate into antibody-secreting cells (AScs), and fail to differentiate into high affinity ASCs

decreased germinal center B cell number ( J:181782 )

• numbers are reduced in spleen relative to wild-type, but are dramatically increased on a Bcl2l11-deficient background compared to conditional knockouts with wild-type background

decreased plasma cell number ( J:181782 )

• NP-specific IgG1 antibody-secreting cells (ASCs) are present only at 20-25% of the numbers observed in wild-type spleens at day 12 after immunization

• high affinity ASCs are almost undetectable and bone marrow

Allelic Composition	Dicer1^tm1Bdh/Dicer1^tm1Bdh Defb41^{tm1(icre)Psip}/Defb41⁺
Genetic Background	involves: 129S6/SvEvTac * C57BL/6N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Defb41^{tm1(icre)Psip} mutation (0 available); any Defb41 mutation (6 available)
Dicer1^tm1Bdh mutation (4 available); any Dicer1 mutation (94 available)

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

reproductive system

oligozoospermia ( J:187838 )

• sperm number is reduced in mutant epididymides; at 6 months, number of tubular cross sections without sperm is increased due to obstruction of efferent ducts; however, number of sperm with angulated tails is not increased at 2 months compared to controls

abnormal seminiferous tubule epithelium morphology ( J:187838 )

• disruption of epithelium resulting from fluid back-pressure is noted in 6-month old mice

abnormal efferent ductules of testis morphology ( J:187838 )

• efferent ducts are enlarged at 2 months

dilated efferent ductule of testis ( J:187838 )

abnormal epididymis morphology ( J:187838 )

• mutant males have a thicker smooth muscle layer than controls at 2 months, showing 3 muscle cell layers surrounding epididymal duct compared to one in controls

abnormal epididymis epithelium morphology ( J:187838 )

• initial segment (IS) of epididymis is much smaller than in controls and cannot be distinguished from the caput epididymis (CAP) whereas in controls the IS is readily discerned due to endogenous beta-gal activity

• epithelial cell layer is disorganized in mutants at 2 months with greater disturbance observed in 6-month old males

• numbers of apoptotic cells are higher in the IS and CAP of mutants relative to controls

• height of epithelium in initial segment of mutants is reduced below that of control animals; epithelial cell height in IS of mutants is significantly lower than in controls

• epithelial cells of IS in 45 day-old animals show regression to an undifferentiated state similar to that observed at 14 days

small epididymis ( J:187838 )

• despite increased cell proliferation, epididymides of mutants are significantly smaller than control (by weight at 2 months, but at 6 months there is no significant difference in epididymides weights)

male infertility ( J:187838 )

• 2-3 month-old males fail to produce offspring when mated to wild-type females, even though sperm is detected in the cauda epididymides

increased epididymal epithelium cell proliferation ( J:187838 )

• increased cell proliferation is observed in the proximal epididymides of 2 month-old mice based on Ki-67 staining (about 2-fold higher in the initial segment (IS) and 6-fold higher in the caput region (CAP) in mutants vs. control)

endocrine/exocrine glands

abnormal seminiferous tubule epithelium morphology ( J:187838 )

• disruption of epithelium resulting from fluid back-pressure is noted in 6-month old mice

cellular

oligozoospermia ( J:187838 )

Allelic Composition	Dicer1^tm1Bdh/Dicer1^tm1Bdh Plekha5^{Tg(AMH-cre)1Flor}/Plekha5⁺
Genetic Background	involves: 129/Sv * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dicer1^tm1Bdh mutation (4 available); any Dicer1 mutation (94 available)
Plekha5^{Tg(AMH-cre)1Flor} mutation (1 available); any Plekha5 mutation (109 available)

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

reproductive system

reproductive system phenotype ( J:145178 )

N	• adult males show no differences in mounting and copulatory activity or in testicular descent and masculinization of internal reproductive organs (seminal vesicles and prostate) relative to control littermates

abnormal male germ cell morphology ( J:145178 )

• at P60, numerous exfoliated germ cells are detected in the lumen of mutant epididymal ducts

decreased male germ cell number ( J:145178 )

• at P60, mutant male germ cells are severely disorganized and reduced in number

• by 6 months of age, the few remaining tubes are almost completely devoid of germ cells

azoospermia ( J:145178 )

• at P60, mutant males show complete absence of mature spermatozoa in testes and epididymal ducts

increased male germ cell apoptosis ( J:145178 )

• significant male germ cell apoptosis is noted at P15 and P21

• by P42, mutant male germ cells exhibit extensive apoptosis

increased Sertoli cell proliferation ( J:145178 )

• a 1.25-, 1.5-, and 2.6-fold increase in Sertoli cell proliferation is observed at P0, P5, and P15, respectively, suggesting delayed Sertoli cell maturation

abnormal seminiferous tubule epithelium morphology ( J:145178 )

• at P60, the mutant seminiferous epithelium appears disorganized

abnormal Sertoli cell morphology ( J:145178 )

• as early as P5, mutant males display Sertoli cell nuclear mislocalization with almost complete absence of lumen

• at P15, mutant Sertoli cell nuclei display an abnormal circular rather than flattened triangular shape

• a 1.25-, 1.5-, and 2.6-fold increase in Sertoli cell proliferation is observed at P0, P5, and P15, respectively, suggesting delayed Sertoli cell maturation

• significant Sertoli cell apoptosis is noted at P5; however, by P21, apoptotic cells are almost exclusively germ cells

• by 3 months of age, obvious defects in Sertoli cell cyto-architecture and polarity are observed

ectopic Sertoli cells ( J:145178 )

• as early as P5, mutant Sertoli cell nuclei are mislocalized in the center of seminiferous tubes instead of the periphery

small seminiferous tubules ( J:145178 )

• at P60, mutant seminiferous tubules are reduced in diameter and devoid of lumen

seminiferous tubule degeneration ( J:145178 )

• as early as P5, numerous pycnotic cells are detected within mutant tubes

• at P42, almost all mutant tubes have become severely vacuolized; however, a few less severely affected tubes display a lumen

• by 3 months of age, most seminiferous tubules have degenerated into Sertoli-cell-only tubes with a severely impaired Sertoli cell morphology

increased Leydig cell number ( J:145178 )

• Leydig cell hyperplasia is already noted at P5, persists throughout adulthood, and becomes massive by 6 months of age

• however, no significant differences in testicular testosterone levels are observed from P0 to P60

small testis ( J:145178 )

• at P15 and P60, mutant testes show a 80% and 90% reduction in size, respectively, relative to control testes

• by 6 months of age, mutant testis size is only 5% of that in control littermates

decreased testis weight ( J:145178 )

• at P60, mutant males show a 90% reduction in testis weight relative to control littermates

testis degeneration ( J:145178 )

• severe testicular degeneration is noted at P60 and worsens upon aging

• by 6 months of age, mutant testes have degenerated into a mass of interstitial cells containing rare remaining tubes

abnormal spermatogenesis ( J:145178 )

• at P60, mutant males show severe spermatogenic defects including vacuolization, Sertoli-cell-only tubes, tubes with spermatogenic arrest at an early post-meiotic stage, and disorganization of the seminiferous epithelium

abnormal spermatid morphology ( J:145178 )

• at P42, round spermatids are severely reduced in number while elongated spermatids are entirely absent in mutant testes

male infertility ( J:145178 )

• mutant males fail to produce any offspring during a 6-month mating period with wild-type C57BL/6J females

endocrine/exocrine glands

increased Sertoli cell proliferation ( J:145178 )

• a 1.25-, 1.5-, and 2.6-fold increase in Sertoli cell proliferation is observed at P0, P5, and P15, respectively, suggesting delayed Sertoli cell maturation

abnormal seminiferous tubule epithelium morphology ( J:145178 )

• at P60, the mutant seminiferous epithelium appears disorganized

abnormal Sertoli cell morphology ( J:145178 )

• as early as P5, mutant males display Sertoli cell nuclear mislocalization with almost complete absence of lumen

• at P15, mutant Sertoli cell nuclei display an abnormal circular rather than flattened triangular shape

• a 1.25-, 1.5-, and 2.6-fold increase in Sertoli cell proliferation is observed at P0, P5, and P15, respectively, suggesting delayed Sertoli cell maturation

• significant Sertoli cell apoptosis is noted at P5; however, by P21, apoptotic cells are almost exclusively germ cells

• by 3 months of age, obvious defects in Sertoli cell cyto-architecture and polarity are observed

ectopic Sertoli cells ( J:145178 )

• as early as P5, mutant Sertoli cell nuclei are mislocalized in the center of seminiferous tubes instead of the periphery

small seminiferous tubules ( J:145178 )

• at P60, mutant seminiferous tubules are reduced in diameter and devoid of lumen

seminiferous tubule degeneration ( J:145178 )

• as early as P5, numerous pycnotic cells are detected within mutant tubes

• at P42, almost all mutant tubes have become severely vacuolized; however, a few less severely affected tubes display a lumen

• by 3 months of age, most seminiferous tubules have degenerated into Sertoli-cell-only tubes with a severely impaired Sertoli cell morphology

increased Leydig cell number ( J:145178 )

• Leydig cell hyperplasia is already noted at P5, persists throughout adulthood, and becomes massive by 6 months of age

• however, no significant differences in testicular testosterone levels are observed from P0 to P60

small testis ( J:145178 )

• at P15 and P60, mutant testes show a 80% and 90% reduction in size, respectively, relative to control testes

• by 6 months of age, mutant testis size is only 5% of that in control littermates

decreased testis weight ( J:145178 )

• at P60, mutant males show a 90% reduction in testis weight relative to control littermates

testis degeneration ( J:145178 )

• severe testicular degeneration is noted at P60 and worsens upon aging

• by 6 months of age, mutant testes have degenerated into a mass of interstitial cells containing rare remaining tubes

cellular

abnormal male germ cell morphology ( J:145178 )

• at P60, numerous exfoliated germ cells are detected in the lumen of mutant epididymal ducts

abnormal spermatid morphology ( J:145178 )

• at P42, round spermatids are severely reduced in number while elongated spermatids are entirely absent in mutant testes

decreased male germ cell number ( J:145178 )

• at P60, mutant male germ cells are severely disorganized and reduced in number

• by 6 months of age, the few remaining tubes are almost completely devoid of germ cells

azoospermia ( J:145178 )

• at P60, mutant males show complete absence of mature spermatozoa in testes and epididymal ducts

increased male germ cell apoptosis ( J:145178 )

• significant male germ cell apoptosis is noted at P15 and P21

• by P42, mutant male germ cells exhibit extensive apoptosis

increased Sertoli cell proliferation ( J:145178 )

• a 1.25-, 1.5-, and 2.6-fold increase in Sertoli cell proliferation is observed at P0, P5, and P15, respectively, suggesting delayed Sertoli cell maturation

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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