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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Bcortm1.1Vjba
targeted mutation 1.1, Vivian J Bardwell
MGI:5925306
Summary 8 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
 		Bcortm1.1Vjba/Y involves: 129S1/Sv MGI:5925307
cn2
 		Bcortm1.1Vjba/Bcor+
Isl1tm1(cre)Sev/Isl1+ 		involves: 129S1/Sv MGI:7343919
cn3
 		Bcortm1.1Vjba/Y
Isl1tm1(cre)Sev/Isl1+ 		involves: 129S1/Sv MGI:7343918
cn4
 		Bcortm1.1Vjba/Y
Commd10Tg(Vav1-icre)A2Kio/Commd10+ 		involves: 129S1/Sv * C57BL/6 * CBA/Ca MGI:5925308
cn5
 		Bcortm1.1Vjba/Y
Pax3tm1(cre)Joe/Pax3+ 		involves: 129S1/Sv * C57BL/6J MGI:7343896
cn6
 		Bcortm1.1Vjba/Y
H2az2Tg(Wnt1-cre)11Rth/H2az2+ 		involves: 129S1/Sv * C57BL/6J * CBA/J MGI:7343897
cn7
 		Bcortm1.1Vjba/Y
Tmem163Tg(ACTB-cre)2Mrt/Tmem163+ 		involves: 129S1/Sv * C57BL/6N * FVB/N MGI:7343894
cn8
 		Bcortm1.1Vjba/Bcor+
Tmem163Tg(ACTB-cre)2Mrt/Tmem163+ 		involves: 129S1/Sv * C57BL/6N * FVB/N MGI:7343893


Genotype
MGI:5925307
cn1
Allelic
Composition		 Bcortm1.1Vjba/Y
Genetic
Background		 involves: 129S1/Sv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bcortm1.1Vjba mutation (1 available); any Bcor mutation (22 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cellular
increased cell proliferation ( J:231455 )
• bone marrow cells transduced with a retrovirus expressing cre recombinase exhibit higher proliferation rates than control cells and enhanced plating and serial replating capacity

hematopoietic system
abnormal bone marrow cell physiology ( J:231455 )
• bone marrow cells transduced with a retrovirus expressing cre recombinase exhibit higher proliferation rates than control cells and enhanced plating and serial replating capacity
• bone marrow cells transduced with a retrovirus expressing cre recombinase form more granulocyte and monocyte colonies in methylcellulose in the presence of granulocyte colony-stimulating factor and monocyte colony-stimulating factor, respectively




Genotype
MGI:7343919
cn2
Allelic
Composition		 Bcortm1.1Vjba/Bcor+
Isl1tm1(cre)Sev/Isl1+
Genetic
Background		 involves: 129S1/Sv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bcortm1.1Vjba mutation (1 available); any Bcor mutation (22 available)
Isl1tm1(cre)Sev mutation (1 available); any Isl1 mutation (36 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
persistent truncus arteriosus ( J:296645 )
• at E13.5 in 7% of embryos

mortality/aging
preweaning lethality, incomplete penetrance ( J:296645 )
• only 44% of expected mice survive to weaning




Genotype
MGI:7343918
cn3
Allelic
Composition		 Bcortm1.1Vjba/Y
Isl1tm1(cre)Sev/Isl1+
Genetic
Background		 involves: 129S1/Sv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bcortm1.1Vjba mutation (1 available); any Bcor mutation (22 available)
Isl1tm1(cre)Sev mutation (1 available); any Isl1 mutation (36 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
abnormal aortic arch morphology ( J:296645 )
• aortic arch abnormalities in 13% of hearts
persistent truncus arteriosus ( J:296645 )
• at E13.5 in 65% of embryos

limbs/digits/tail
syndactyly ( J:296645 )
• show simple or complex syndactyly of the second and third digits in 4 of 17 embryos at E14.5

mortality/aging
lethality throughout fetal growth and development ( J:296645 )
• begin to see decrease in numbers after E13.5




Genotype
MGI:5925308
cn4
Allelic
Composition		 Bcortm1.1Vjba/Y
Commd10Tg(Vav1-icre)A2Kio/Commd10+
Genetic
Background		 involves: 129S1/Sv * C57BL/6 * CBA/Ca
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bcortm1.1Vjba mutation (1 available); any Bcor mutation (22 available)
Commd10Tg(Vav1-icre)A2Kio mutation (3 available); any Commd10 mutation (24 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hematopoietic system
increased neutrophil cell number ( J:231455 )
• increase in peripheral blood neutrophil levels
• however, no changes in red blood cell, platelet or lymphocyte levels

immune system
increased neutrophil cell number ( J:231455 )
• increase in peripheral blood neutrophil levels
• however, no changes in red blood cell, platelet or lymphocyte levels




Genotype
MGI:7343896
cn5
Allelic
Composition		 Bcortm1.1Vjba/Y
Pax3tm1(cre)Joe/Pax3+
Genetic
Background		 involves: 129S1/Sv * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bcortm1.1Vjba mutation (1 available); any Bcor mutation (22 available)
Pax3tm1(cre)Joe mutation (1 available); any Pax3 mutation (50 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
cardiovascular system phenotype ( J:296645 )
N
• persistent truncus arteriosus is not seen despite loss of expression in neural crest cells

skeleton
short Meckel's cartilage ( J:296645 )
• fails to properly elongate and has a broader, curved shape at E14.5

hearing/vestibular/ear
decreased tympanic ring size ( J:296645 )
• appears truncated and thicker

endocrine/exocrine glands
abnormal major salivary gland morphology ( J:296645 )
• supernumerary pair of major salivary glands embedded between the tongue and the floor of the mouth
• ectopic glands contain mainly serous acini but also have groups of mucous acini

behavior/neurological

craniofacial
short Meckel's cartilage ( J:296645 )
• fails to properly elongate and has a broader, curved shape at E14.5
failure of palatal shelf elevation ( J:296645 )
• fail to rise to the horizontal position at E14.5 and E15.5
• in culture palatal shelf elevation and fusion occurs similar to controls
complete cleft palate ( J:296645 )
• all show severe clefting
• complete cleft of both the hard and soft palates
abnormal tongue morphology ( J:296645 )
• disorganized morphology
abnormal tongue position ( J:296645 )
• at E14.5 the tongue fails to descend within the oral cavity
• tongue remains elevated at E15.5 and E18.5
bifid tongue ( J:296645 )
• in some cases

digestive/alimentary system
failure of palatal shelf elevation ( J:296645 )
• fail to rise to the horizontal position at E14.5 and E15.5
• in culture palatal shelf elevation and fusion occurs similar to controls
complete cleft palate ( J:296645 )
• all show severe clefting
• complete cleft of both the hard and soft palates
abnormal tongue morphology ( J:296645 )
• disorganized morphology
abnormal tongue position ( J:296645 )
• at E14.5 the tongue fails to descend within the oral cavity
• tongue remains elevated at E15.5 and E18.5
bifid tongue ( J:296645 )
• in some cases
abnormal major salivary gland morphology ( J:296645 )
• supernumerary pair of major salivary glands embedded between the tongue and the floor of the mouth
• ectopic glands contain mainly serous acini but also have groups of mucous acini

integument

growth/size/body
failure of palatal shelf elevation ( J:296645 )
• fail to rise to the horizontal position at E14.5 and E15.5
• in culture palatal shelf elevation and fusion occurs similar to controls
complete cleft palate ( J:296645 )
• all show severe clefting
• complete cleft of both the hard and soft palates
abnormal tongue morphology ( J:296645 )
• disorganized morphology
abnormal tongue position ( J:296645 )
• at E14.5 the tongue fails to descend within the oral cavity
• tongue remains elevated at E15.5 and E18.5
bifid tongue ( J:296645 )
• in some cases
tongue ankylosis ( J:296645 )

mortality/aging
neonatal lethality, complete penetrance ( J:296645 )
• fail to thrive and die within a few hours of birth




Genotype
MGI:7343897
cn6
Allelic
Composition		 Bcortm1.1Vjba/Y
H2az2Tg(Wnt1-cre)11Rth/H2az2+
Genetic
Background		 involves: 129S1/Sv * C57BL/6J * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bcortm1.1Vjba mutation (1 available); any Bcor mutation (22 available)
H2az2Tg(Wnt1-cre)11Rth mutation (2 available); any H2az2 mutation (26 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
craniofacial
complete cleft palate ( J:296645 )
• all show severe clefting
• complete cleft of both the hard and soft palates

endocrine/exocrine glands
abnormal major salivary gland morphology ( J:296645 )
• supernumerary pair of major salivary glands embedded between the tongue and the floor of the mouth
• ectopic glands contain mainly serous acini but also have groups of mucous acini

mortality/aging
neonatal lethality, complete penetrance ( J:296645 )
• fail to thrive and die within a few hours of birth

digestive/alimentary system
complete cleft palate ( J:296645 )
• all show severe clefting
• complete cleft of both the hard and soft palates
abnormal major salivary gland morphology ( J:296645 )
• supernumerary pair of major salivary glands embedded between the tongue and the floor of the mouth
• ectopic glands contain mainly serous acini but also have groups of mucous acini

growth/size/body
complete cleft palate ( J:296645 )
• all show severe clefting
• complete cleft of both the hard and soft palates




Genotype
MGI:7343894
cn7
Allelic
Composition		 Bcortm1.1Vjba/Y
Tmem163Tg(ACTB-cre)2Mrt/Tmem163+
Genetic
Background		 involves: 129S1/Sv * C57BL/6N * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bcortm1.1Vjba mutation (1 available); any Bcor mutation (22 available)
Tmem163Tg(ACTB-cre)2Mrt mutation (3 available); any Tmem163 mutation (37 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging

embryo
embryonic growth retardation ( J:296645 )
• about a half to full day developmental delay at E7.5-E8.5
• in stage matched embryos at the 8-9 somite stage abnormalities are most obvious in the trunk and brain
• in stage matched embryos at the 8-9 somite stage the trunk is shorter and cardiac tissue is not prominent

nervous system

growth/size/body
embryonic growth retardation ( J:296645 )
• about a half to full day developmental delay at E7.5-E8.5
• in stage matched embryos at the 8-9 somite stage abnormalities are most obvious in the trunk and brain
• in stage matched embryos at the 8-9 somite stage the trunk is shorter and cardiac tissue is not prominent




Genotype
MGI:7343893
cn8
Allelic
Composition		 Bcortm1.1Vjba/Bcor+
Tmem163Tg(ACTB-cre)2Mrt/Tmem163+
Genetic
Background		 involves: 129S1/Sv * C57BL/6N * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bcortm1.1Vjba mutation (1 available); any Bcor mutation (22 available)
Tmem163Tg(ACTB-cre)2Mrt mutation (3 available); any Tmem163 mutation (37 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
neonatal lethality, incomplete penetrance ( J:296645 )
• Background Sensitivity: when backcrossed to a C57BL/6N background
postnatal lethality, incomplete penetrance ( J:296645 )
• fewer than expected found at weaning, with loss occurring between P0.5 and weaning when the recombined allele is inherited paternally
• Background Sensitivity: survival is reduced when backcrossed into the C57BL/6N background to about 5%
embryonic lethality prior to tooth bud stage ( J:296645 )
• vast majority of embryos are dead by E12.5 when the recombined allele is maternally inherited

embryo
decreased embryo size ( J:296645 )
• at E8.5 and E10.5 when the recombined allele is maternally inherited
abnormal placenta morphology ( J:296645 )
• increase in maternal blood near the trophoblast giant cell layer when the allele is maternally inherited
increased trophoblast giant cell number ( J:296645 )
• over-representation of larger than normal placental trophoblast giant cells at E10.5-E11.5 when the recombined allele is maternally inherited
• trophoblast giant cells appear to invade the spongiotrophoblast layer when the recombined allele is maternally inherited
abnormal spongiotrophoblast layer morphology ( J:296645 )
• trophoblast giant cells appear to invade the spongiotrophoblast layer when the recombined allele is maternally inherited
abnormal placenta labyrinth morphology ( J:296645 )
• at E12.5 appear to have more blood relative to controls when the recombined allele is maternally inherited
thin placenta labyrinth ( J:296645 )
• thinner in placental midpoint sections when the recombined allele is maternally inherited

craniofacial
cleft palate ( J:296645 )
• clefting in 32% (7 of 22) of late gestation females
asymmetric snout ( J:296645 )
• occasional
broad snout ( J:296645 )
• occasional

vision/eye
cataract ( J:296645 )
• 55% (23 of 42) of surviving mice have lens opacification
• 8 of 23 with cataracts have bilateral catacts
microphthalmia ( J:296645 )
• average width is reduced by about 0.2 mm compared to controls
• pronounced bilateral asymmetry of globe width
blepharoptosis ( J:296645 )
• eyelids often appear ptotic and/or swollen

skeleton
kyphosis ( J:296645 )
• most obvious in older mice
• no obvious wedging of the vertebral discs

limbs/digits/tail
kinked tail ( J:296645 )
• all survivors have kinked tails

digestive/alimentary system
cleft palate ( J:296645 )
• clefting in 32% (7 of 22) of late gestation females

growth/size/body
cleft palate ( J:296645 )
• clefting in 32% (7 of 22) of late gestation females
asymmetric snout ( J:296645 )
• occasional
broad snout ( J:296645 )
• occasional
decreased embryo size ( J:296645 )
• at E8.5 and E10.5 when the recombined allele is maternally inherited

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
syndromic microphthalmia 2 DOID:0111809 OMIM:300166
 J:296645




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Send questions and comments to User Support. 		last database update
11/05/2024
MGI 6.24 		The Jackson Laboratory