Analysis Tools|
Allele Symbol Allele Name Allele ID |
Nipbl+ wild type MGI:3528496 |
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| Summary |
19 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• only about 32% of of mice are viable after birth
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• 15% reduction in weight at E14.5
• a wild-type embryo with a heterozygous placenta also shows embryonic growth impairment
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• increase in the junctional zone
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• spongiotrophoblasts have more diploid DNA content at E14.5
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• mislocalized cells from the junctional zone are present in the labyrinth zone
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• placentas are 8% heavier at E14.5
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• increased secretion of CCL2 from the placenta at E14.5
• reduced IkappaBalpha in the junctional zone and labyrinth zone at E14.5
• elevated gammaH2A.X signalling indicating decreased DNA repair and persistence of DNA damage in trophoblast giant cells and spongiotrophoblasts but not in glycogen cells in the placenta
• at E14.5 but not E9.5 elevated signals of senescence are seen in spongiotrophoblasts
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• spongiotrophoblasts have more diploid DNA content at E14.5
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• elevated gammaH2A.X signalling indicating decreased DNA repair and persistence of DNA damage in trophoblast giant cells and spongiotrophoblasts but not in glycogen cells in the placenta
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• in the jawbone
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• elevated gammaH2A.X signalling indicating decreased DNA repair and persistence of DNA damage in trophoblast giant cells and spongiotrophoblasts but not in glycogen cells in the placenta
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• increased secretion of CCL2 by the placenta at E14.5 and a 2-fold increase in CCL2 levels in the embryo compared to controls at E18.5
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• 15% reduction in weight at E14.5
• a wild-type embryo with a heterozygous placenta also shows embryonic growth impairment
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• increased secretion of CCL2 by the placenta at E14.5 and a 2-fold increase in CCL2 levels in the embryo compared to controls at E18.5
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Cornelia de Lange syndrome 1 | DOID:0080505 |
OMIM:122470 |
J:297059 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Bone and heart development abnormalities in NipblGt(RRS564)Byg/Nipbl+ mice
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• although present in normal Mendelian ratios at E17.5 and E18.5, 75% to 80% of mice die prior to 4 weeks of age
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• many mice exhibit disorganized compact layer, especially near the apex, unlike in wild-type mice
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• many mice exhibit abnormal ventricular and interventricular myocardium, including abnormal lacunar structures, compared with wild-type mice
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• body weight is decreased 40% to 50% compared to wild-type mice
• by 9 weeks, mice weight 65% to 70% of wild-type
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• mice exhibit a sunken mid-face unlike wild-type mice
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• during the first weeks of life, mice fail to thrive and undergo several days of wasting followed by death unlike wild-type mice
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• 18% to 19% smaller than wild-type at E17.5 to E18.5
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• at E17.5 to E18.5, mice weight is 18% to 19% less than in wild-type mice
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| N |
• no abnormalities detected in the atrioventricular valves or septum, outflow tract, or pulmonary vasculature
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• many mice exhibit abnormal heart morphology compared with wild-type mice
• however, mice that survive the perinatal period exhibit normal heart morphology
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• many mice exhibit disorganized compact layer, especially near the apex, unlike in wild-type mice
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• many mice exhibit abnormal ventricular and interventricular myocardium, including abnormal lacunar structures, compared with wild-type mice
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• in some mice
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• in 50% of mice as early as E15.5
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• in 58% of mice between E15.5 and E17.5
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• at E13.5 77% of hearts show incomplete fusion or lack of contact of the developing septum with the cardiac cushion increased compare to 14% of wild-type hearts
• however, at E17.5 ventricular septal defects are not typically seen
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• at E10.5
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• skull bone thickness is reduced compared to in wild-type mice
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• mice exhibit a 25% reduction in endocranial volume compared with wild-type mice
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• the sphenoid bone is reduced compared to in wild-type mice
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• the ethmoid bone is reduced compared to in wild-type mice
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• at E17.5
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• some mice exhibit inflammatory and fibrotic change consistent with repeated abrasion or injury unlike wild-type mice
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• 22% of mice exhibit opthalmological defects unlike wild-type mice
• as early as 3 weeks of age, 14% of mice exhibit ocular opacification unlike wild-type mice
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• some mice exhibit periorbital inflammation that progresses to permanent closure of eyelids unlike in wild-type mice
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• 30% of mice treated with a normal dose of the anesthetic avertin adopt an opisthotonic position unlike similarly treated wild-type mice
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• in 15% of mice compared with 2% of wild-type mice
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• in some mice
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• lobe IX exhibits a specific reduction compared to in wild-type mice
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• in a few mice
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• nearly all mice exhibit abnormal relative intensities of the components of the brainstem auditory evoked potential compared with wild-type mice
• peak III is reduced compared to in wild-type mice
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• mice embryonic fibroblasts exhibit less spontaneous differentiation into adipocytes compared with wild-type cells
• however, induced adipogenesis of mouse embryonic fibroblasts is normal
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• some mice exhibit periorbital inflammation that progresses to permanent closure of eyelids unlike in wild-type mice
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• some mice exhibit inflammatory and fibrotic change consistent with repeated abrasion or injury unlike wild-type mice
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• at E17.5
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• skull bone thickness is reduced compared to in wild-type mice
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• mice exhibit a 25% reduction in endocranial volume compared with wild-type mice
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• the sphenoid bone is reduced compared to in wild-type mice
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• the ethmoid bone is reduced compared to in wild-type mice
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• mice exhibit a sunken mid-face unlike wild-type mice
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Cornelia de Lange syndrome 1 | DOID:0080505 |
OMIM:122470 |
J:154117 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• only 4% of pups survive to weaning
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• at E17.5 in about 30% of mice
• however, no ventricular septal defect, arterial stenosis or obvious abnormalities of ventricular wall thickness are seen
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• in proportion to decrease in body size
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• survive poorly
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• at E17.5 in about 30% of mice
• however, no ventricular septal defect, arterial stenosis or obvious abnormalities of ventricular wall thickness are seen
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• in proportion to decrease in body size
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• newborn heterozygotes appear smaller than wild-type controls
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• after weaning, heterozygotes are significantly smaller than wild-type controls
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• at 3 to 8 weeks of age, heterozygotes fed ad libitum consistently weigh less than wild-type controls
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• at E18.5, the body weight of heterozygotes is reduced by 18.5% relative to that of wild-type controls
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• newborn heterozygotes display various skeletal abnormalities
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• newborn heterozygotes display open calvarial foramen
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• newborn heterozygotes exhibit formation of bilateral (4/6) or unilateral (2/6) stunted 14th ribs
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• 6 of 12 newborn heterozygotes exhibit misalignment of ossification centers in the sternum
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• newborn heterozygotes exhibit delayed ossification in the phalangeal bones
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• newborn heterozygotes display open calvarial foramen
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• heart size is similar to wild-type
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• in 26% of hearts at E17.5
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• body size is similar to wild-type
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 5% of hearts show an atrial septal defect, statistically indistinguishable from wild-type
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• correlates to body size
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• hearts lack atrial septal defects and are indistinguishable from wild-type
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• heart size is similar to wild-type
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• in 30% of hearts at E17.5
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| N |
• body size is similar to wild-type
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• only a single heart showed an atrial septal defect, statistically indistinguishable from wild-type
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• correlates to body size
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• in newborn mice, the length of the mandible is 62% of that in wild-type controls, i.e. intermediate between that of mice that are singly homozygous for Mau2tm1.1Hpt and hemizygous for Tg(Wnt1-cre)11Rth (49% of wild-type controls) and mice that are double homozygous for both Nipbltm1.1Hpt and Mau2tm1.1Hpt and hemizygous for Tg(Wnt1-cre)11Rth (68% of wild-type controls)
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• in newborn mice, the length of the mandible is 62% of that in wild-type controls, i.e. intermediate between that of mice that are singly homozygous for Mau2tm1.1Hpt and hemizygous for Tg(Wnt1-cre)11Rth (49% of wild-type controls) and mice that are double homozygous for both Nipbltm1.1Hpt and Mau2tm1.1Hpt and hemizygous for Tg(Wnt1-cre)11Rth (68% of wild-type controls)
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• embryos are significantly larger than mutant mice wild-type for Wapl
• partial rescue of about 24% of reduced embryo growth phenotype
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• none found at weaning
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• embryos are significantly larger than mutant mice wild-type for Wapl
• partial rescue of about 24% of reduced embryo growth phenotype
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• embryos are significantly larger than mutant mice wild-type for Wapl
• partial rescue of about 24% of reduced embryo growth phenotype
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• none found at weaning
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• embryos are significantly larger than mutant mice wild-type for Wapl
• partial rescue of about 24% of reduced embryo growth phenotype
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• increased incidence of heart defects compared to mice heterozygous for the Nipbl allele alone (83% compared to 30%)
• spectrum of defects is more varied in type and more severe than in mice heterozygous for the Nipbl allele alone
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• in 2 heartts
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• sometimes seen in combination with ventricular septal defects
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• sometimes seen in combination with atrial septal defects
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• viability is increased up to 63% for mutant mice homozygous for the mutation in Eif2ak2 compared to mutant mice wild-type for Eif2ak2 (~32% viability)
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• increase in the junctional zone
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• spongiotrophoblasts have more diploid DNA content at E14.5
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• increased diploid DNA content at E14.5
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• ossification in the jawbone is improved compared to mutant mice wild-type for Eif2ak2
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• spongiotrophoblasts and glycogen cells have more diploid DNA content at E14.5
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• elevated gammaH2A.X signalling indicating decreased DNA repair and persistence of DNA damage in spongiotrophoblasts
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• elevated gammaH2A.X signalling indicating decreased DNA repair and persistence of DNA damage in spongiotrophoblasts
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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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last database update 03/25/2025 MGI 6.24 |
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