About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Trp53bp2tm1Xlu
targeted mutation 1, Xin Lu
MGI:3625686
Summary 9 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Trp53bp2tm1Xlu/Trp53bp2tm1Xlu B6.129S6-Trp53bp2tm1Xlu MGI:6191758
hm2
Trp53bp2tm1Xlu/Trp53bp2tm1Xlu C.129S6-Trp53bp2tm1Xlu MGI:4819168
hm3
Trp53bp2tm1Xlu/Trp53bp2tm1Xlu involves: 129S6/SvEvTac * C57BL/6J MGI:3629203
ht4
Trp53bp2tm1Xlu/Trp53bp2+ B6.129S6-Trp53bp2tm1Xlu MGI:6191759
ht5
Trp53bp2tm1Xlu/Trp53bp2+ C.129S6-Trp53bp2tm1Xlu MGI:6191760
ht6
Trp53bp2tm1Xlu/Trp53bp2+ involves: 129S6/SvEvTac * C57BL/6J MGI:3629204
cx7
Trp53tm1Tyj/Trp53+
Trp53bp2tm1Xlu/Trp53bp2+
involves: 129S2/SvPas * 129S6/SvEvTac * C57BL/6J MGI:3629207
cx8
Trp53tm1Tyj/Trp53+
Trp53bp2tm1Xlu/Trp53bp2tm1Xlu
involves: 129S2/SvPas * 129S6/SvEvTac * C57BL/6J MGI:3629206
cx9
Trp53tm1Tyj/Trp53tm1Tyj
Trp53bp2tm1Xlu/Trp53bp2tm1Xlu
involves: 129S2/SvPas * 129S6/SvEvTac * C57BL/6J MGI:3629205


Genotype
MGI:6191758
hm1
Allelic
Composition
Trp53bp2tm1Xlu/Trp53bp2tm1Xlu
Genetic
Background
B6.129S6-Trp53bp2tm1Xlu
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Trp53bp2tm1Xlu mutation (0 available); any Trp53bp2 mutation (53 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 100% neonatal lethality, with no mice surviving after birth

growth/size/body
• 67% of embryos have cleft palate
• dolichocephaly in some embryos

cardiovascular system
• narrow umbilical vein in 50% of embryos
• narrow ductus venosus in 50% of mice
• embryos have abnormal heart position involving a 30-40 degree twist along the coronal axis at E13.5 and E14.5
• 67% of embryos have a ventricular septal defect
• 31% of embryos exhibit intracranial hemorrhages

craniofacial
• in some embryos
• 67% of embryos have cleft palate
• dolichocephaly in some embryos

digestive/alimentary system
• 67% of embryos have cleft palate

embryo
• narrow umbilical vein in 50% of embryos
• Background Sensitivity: 46% of embryos exhibit neural tube defects, a much higher percentage than on the BALB/c or mixed backgrounds
• neural tube defects range from spina bifida to craniorachischisis with some spina bifida
• occasional overgrowth of neural tissue is seen in embryos with neural tube defects
• seen in some embryos
• seen in some embryos
• spinal column of the neural tube is often wrinkled, even in embryos without neural tube defects

endocrine/exocrine glands
• a high percentage of embryos exhibit gonadal abnormalities resulting in unclear gender at E14.5

nervous system
• 31% of embryos exhibit intracranial hemorrhages
• Background Sensitivity: 46% of embryos exhibit neural tube defects, a much higher percentage than on the BALB/c or mixed backgrounds
• neural tube defects range from spina bifida to craniorachischisis with some spina bifida
• occasional overgrowth of neural tissue is seen in embryos with neural tube defects
• seen in some embryos
• seen in some embryos
• spinal column of the neural tube is often wrinkled, even in embryos without neural tube defects
• a high percentage of embryos exhibit abnormal trigeminal nerve
• a high percentage of embryos exhibit abnormal spinal ganglia

renal/urinary system
• a high percentage of embryos exhibit urethral abnormalities

reproductive system
• a high percentage of embryos exhibit gonadal abnormalities resulting in unclear gender at E14.5

skeleton
• in some embryos

vision/eye
• seen in some embryos
• seen in some embryos
• retinal abnormalities
• some mice show uni/bi-lateral eye agenesis

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
chromosome 1q41-q42 deletion syndrome DOID:0060412 OMIM:612530
J:240594




Genotype
MGI:4819168
hm2
Allelic
Composition
Trp53bp2tm1Xlu/Trp53bp2tm1Xlu
Genetic
Background
C.129S6-Trp53bp2tm1Xlu
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Trp53bp2tm1Xlu mutation (0 available); any Trp53bp2 mutation (53 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• Background Sensitivity: unlike mice on a mixed 129/Sv and C57BL/6J background, the majority of mice survive past weaning

behavior/neurological
• surviving mice have a 100% incidence of hop gait

nervous system
• 50% of embryos exhibit intracranial hemorrhages
• 50% of embryos exhibit subcranial and intraventricular hemorrhages
• overall reduction in the number of differentiated neurons in the cortex at E14.5
• at E14.5 mitotic cells are found scattered up the cortical plate rather than being mostly confined to the ventricular surface as in controls
• interkinetic nuclear migration within the ventricular zone is disturbed with a reduction in the percentage of BrdU positive cells on the apical side of the zone
• betaIII tubulin expressing post mitotic neurons are found in the ventricular zone suggesting a defect in radial migration
• late born neurons are mislocalized in the cortex at P15
• Background Sensitivity: 8% of embryos exhibit a neural tube defect, a much smaller percentage than on the C57BL/6 background
• at E13.5 the cytoarchitecture of the neuroepithelium is disorganized and polarity of progenitor cells is lost in the ganglionic eminence
• extensive morphological abnormalities are detected at E13.5
• the pineal gland is absent or severely hypoplastic in nearly all embryos
• at E14.5 mitotic cells are found scattered up the cortical plate
• betaIII tubulin expressing post mitotic neurons are found in the ventricular zone
• in all mice
• brain ventricles are enlarged in about 50% of embryos at E13.5 and E14.5
• bodies of the lateral ventricles are more parallel and bulbous than in controls
• in mice with very mild hydroencephaly epithelial cells are rounded, the epithelium is disorganized and the tight/adherens junctions between cells are less electron-dense
• many of the tight/adherens junctions at the apical poles of choroid plexus cells fail to form tightly closed electron-dense junctions
• overall reduction in the number of differentiated neurons in the cortex at E14.5
• late born neurons are mislocalized in the cortex at P15
• cells expressing SMI32 (a marker of layers III and V) are mislocalized at P15
• olfactory bulbs are not pronounced well in 67% of embryos
• the cytoarchitecture of the neuroepithelium is disorganized and polarity of progenitor cells is lost
• exencephaly is the only neural tube defect seen
• 33% of embryos lack the abducens nerve
• spinal canal is abnormal in all embryos, with abnormal stenosis, presence of blood, or small cyst-like structures in the caudal part of the neural tube
• all embryos have abnormalities in the cerebrospinal fluid space with blockage and/or hemorrhage in at least one part of the ventricular system and/or spinal canal
• at E13.5 abnormal growth of neuroepithelial cells is seen at the level of the third ventricle and in the ganglionic eminence the cytoarchitecture of the neuroepithelium is disorganized and polarity of progenitor cells is lost
• Background Sensitivity: the extent of abnormal cell growth is less dramatic in mice on an inbred BALB/c background compared to mice on a mixed 129/Sv and C57BL/6J background

cardiovascular system
• narrow ductus venosus in 67% of mice
• embryos have abnormal heart position involving a 30-40 degree twist along the coronal axis at E13.5 and E14.5
• 33% of embryos have a ventricular septal defect
• 50% of embryos exhibit intracranial hemorrhages
• 50% of embryos exhibit subcranial and intraventricular hemorrhages

vision/eye
• retinal dysplasia is seen in all mice, similar to that seen in mice on a mixed 129/Sv and C57BL/6J background (J:162396)
• extensive morphological abnormalities are detected at E13.5 (J:162396)
• retinal abnormalities (J:240594)
• severe disruption of lamination at P15 with mislocalization of rods, cones, Muller glia, horizontal cells, amacrine cells, and retinal ganglionic cells

craniofacial
• 33% of embryos have cleft palate

cellular
• overall reduction in the number of differentiated neurons in the cortex at E14.5
• at E14.5 mitotic cells are found scattered up the cortical plate rather than being mostly confined to the ventricular surface as in controls
• interkinetic nuclear migration within the ventricular zone is disturbed with a reduction in the percentage of BrdU positive cells on the apical side of the zone
• betaIII tubulin expressing post mitotic neurons are found in the ventricular zone suggesting a defect in radial migration
• late born neurons are mislocalized in the cortex at P15

digestive/alimentary system
• 33% of embryos have cleft palate

endocrine/exocrine glands
• the pineal gland is absent or severely hypoplastic in nearly all embryos
• in 67% of mice

embryo
• Background Sensitivity: 8% of embryos exhibit a neural tube defect, a much smaller percentage than on the C57BL/6 background
• at E13.5 the cytoarchitecture of the neuroepithelium is disorganized and polarity of progenitor cells is lost in the ganglionic eminence

growth/size/body
• 33% of embryos have cleft palate

hematopoietic system
• in 67% of mice

immune system
• in 67% of mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
chromosome 1q41-q42 deletion syndrome DOID:0060412 OMIM:612530
J:240594




Genotype
MGI:3629203
hm3
Allelic
Composition
Trp53bp2tm1Xlu/Trp53bp2tm1Xlu
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Trp53bp2tm1Xlu mutation (0 available); any Trp53bp2 mutation (53 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• majority of homozygotes die between 6 and 30 days postnatal; remainder die shortly after weaning; postnatal death due to combination of hydrocephalus and heart defects (data not shown) (J:108701)
• Background Sensitivity: unlike mice on an inbred BALB/c background all mice die before weaning (J:162396)
• expected numbers of homozygotes survived to E18.5, but homozygous pups found after birth is far below expected frequency (data not shown) (J:108701)
• about 30% of homozygous pups survive to birth (J:162396)

digestive/alimentary system
• in some embryos

embryo
• Background Sensitivity: 15% of embryos have neural tube defects, an intermediate percentage on the mixed background compared to on a C57BL/6 or BALB/c background
• neural tube defects are small at early stages (E9.5-E10.5) and progress to larger lesions after E13.5
• neural tube defects mainly are exencephaly and rostral spinal bifida and rarely craniorachischisis
• seen only rarely

growth/size/body
• in some embryos
• dolichocephaly in some embryos
• homozygotes surviving birth are runted (J:108701)
• surviving pups are about 1.5 - 2 times smaller than littermate controls (J:162396)

craniofacial
• in some embryos
• homozygotes surviving birth have a domed head shape
• in some embryos
• dolichocephaly in some embryos

endocrine/exocrine glands
• a high percentage of embryos exhibit gonadal abnormalities resulting in unclear gender at E14.5

renal/urinary system
• a high percentage of embryos exhibit urethral abnormalities

nervous system
• increase in the number of apoptotic cells in the brain at E13.5
• about a 2 to 2.5 fold increase in the mitotic index in the neural tube at E11.5 and E13.5
• increase in the percentage of BrdU positive cells in the ganglionic eminence suggesting a shortening of the cell cycle of neural progenitors
• Background Sensitivity: 15% of embryos have neural tube defects, an intermediate percentage on the mixed background compared to on a C57BL/6 or BALB/c background
• neural tube defects are small at early stages (E9.5-E10.5) and progress to larger lesions after E13.5
• neural tube defects mainly are exencephaly and rostral spinal bifida and rarely craniorachischisis
• seen only rarely
• extensive morphological abnormalities are detected at E13.5
• at E13.5 cells in the VZ are disorganized, less columnar, and protrude into the ventricles
• in all pups at P5 - P30
• drastically dilated with severe damage to the subventricular structures
• at E13.5 the normal radial orientation of progenitor cells in the ganglionic eminence is lost
• a high percentage of embryos exhibit abnormal trigeminal nerve
• a high percentage of embryos exhibit abnormal spinal ganglia
• at E13.5 abnormal growth of neuroepithelial cells is seen either at the level of the third ventricle or throughout the brain
• at E13.5 rosettes are seen in the neuroepithelium and highly proliferative neural progenitors are spread throughout the proliferating neuroepithelium rather than being confined to the ventricular zone of the telencephalon as in controls
• Background Sensitivity: the extent of abnormal cell growth is more dramatic in mice on a mixed 129/Sv and C57BL/6J background compared to mice on an inbred BALB/c background
• severe over-expansion frequently prevents the identification of forebrain structures
• about a 2 to 2.5 fold increase in the mitotic index at E11.5 and E13.5

vision/eye
• most common retinal defect is bilateral retinal dysplasia
• extensive morphological abnormalities are detected at E13.5
• at E13.5 progenitor cells in the central region are arranged in rosette-like structures
• dysplastic rosettes are present in mice with bilateral retinal dysplasia
• dysplastic rosettes are present in mice with bilateral retinal dysplasia

reproductive system
• a high percentage of embryos exhibit gonadal abnormalities resulting in unclear gender at E14.5

skeleton
• in some embryos
• homozygotes surviving birth have a domed head shape

cellular
• increase in the number of apoptotic cells in the brain at E13.5
• about a 2 to 2.5 fold increase in the mitotic index in the neural tube at E11.5 and E13.5
• increase in the percentage of BrdU positive cells in the ganglionic eminence suggesting a shortening of the cell cycle of neural progenitors

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
chromosome 1q41-q42 deletion syndrome DOID:0060412 OMIM:612530
J:240594




Genotype
MGI:6191759
ht4
Allelic
Composition
Trp53bp2tm1Xlu/Trp53bp2+
Genetic
Background
B6.129S6-Trp53bp2tm1Xlu
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Trp53bp2tm1Xlu mutation (0 available); any Trp53bp2 mutation (53 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• 30% incidence of ventricular septal defect

craniofacial
• 30% incidence of cleft palate

digestive/alimentary system
• 30% incidence of cleft palate

growth/size/body
• 30% incidence of cleft palate

nervous system
• 20% incidence of spinal canal abnormalities

vision/eye
• 30% incidence of retinal abnormalities




Genotype
MGI:6191760
ht5
Allelic
Composition
Trp53bp2tm1Xlu/Trp53bp2+
Genetic
Background
C.129S6-Trp53bp2tm1Xlu
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Trp53bp2tm1Xlu mutation (0 available); any Trp53bp2 mutation (53 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• 13% incidence of ventricular septal defect
• small patches of subcranial hemorrhage

embryo
• 25% of embryos show localized abnormalities in the distribution of neuroepithelial brain tissue associated with small patches of subcranial hemorrhage

nervous system
• 25% of embryos show localized abnormalities in the distribution of neuroepithelial brain tissue associated with small patches of subcranial hemorrhage
• 25% incidence of asymmetric lateral ventricles




Genotype
MGI:3629204
ht6
Allelic
Composition
Trp53bp2tm1Xlu/Trp53bp2+
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Trp53bp2tm1Xlu mutation (0 available); any Trp53bp2 mutation (53 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
neoplasm
• incidence of tumors (12/20) is much higher in heterozygous mice than in wild-type mice (4/18) over a 3 year period
• 1/20 spontaneously developed this sarcoma: only observed in irradiated heterozygous mice, not in wild-type
• 40% of mice develop lymphomas; in wild-type this is the only type of tumor occurring tumor origin is determined to be T and B cell-derived
• T cell lymphomas in various tissues are observed in both irradiated heterozygous and wild-type mice
• 1/20 showed squamous cell carcinoma
• 2/20 heterozygotes developed angiosarcoma
• more irradiated heterozygotes (9/19) develop tumors than untreated heterozygotes (1/19) or irradiated wild-type mice (3/19)

muscle
• 1/20 spontaneously developed this sarcoma: only observed in irradiated heterozygous mice, not in wild-type

endocrine/exocrine glands
• T cell lymphomas in various tissues are observed in both irradiated heterozygous and wild-type mice

hematopoietic system
• T cell lymphomas in various tissues are observed in both irradiated heterozygous and wild-type mice

immune system
• T cell lymphomas in various tissues are observed in both irradiated heterozygous and wild-type mice




Genotype
MGI:3629207
cx7
Allelic
Composition
Trp53tm1Tyj/Trp53+
Trp53bp2tm1Xlu/Trp53bp2+
Genetic
Background
involves: 129S2/SvPas * 129S6/SvEvTac * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Trp53bp2tm1Xlu mutation (0 available); any Trp53bp2 mutation (53 available)
Trp53tm1Tyj mutation (12 available); any Trp53 mutation (239 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
neoplasm
• 26% of double heterozygotes develop tumors over a 72 week period
• lymphoma development is accelerated in compared to Trp53 heterozygotes with wild-type Trp53bp2; at 42 weeks there is a significant difference in the onset between the two genotypes
• at 72 weeks the difference in onset of lymphoma development is not significant




Genotype
MGI:3629206
cx8
Allelic
Composition
Trp53tm1Tyj/Trp53+
Trp53bp2tm1Xlu/Trp53bp2tm1Xlu
Genetic
Background
involves: 129S2/SvPas * 129S6/SvEvTac * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Trp53bp2tm1Xlu mutation (0 available); any Trp53bp2 mutation (53 available)
Trp53tm1Tyj mutation (12 available); any Trp53 mutation (239 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• only 20% of the expected number of pups are found at birth




Genotype
MGI:3629205
cx9
Allelic
Composition
Trp53tm1Tyj/Trp53tm1Tyj
Trp53bp2tm1Xlu/Trp53bp2tm1Xlu
Genetic
Background
involves: 129S2/SvPas * 129S6/SvEvTac * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Trp53bp2tm1Xlu mutation (0 available); any Trp53bp2 mutation (53 available)
Trp53tm1Tyj mutation (12 available); any Trp53 mutation (239 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• no homozygous offspring are found in timed matings from E11.5-17.5





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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
10/29/2024
MGI 6.24
The Jackson Laboratory