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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tmem163+
wild type
MGI:3629305
Summary 14 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Tcf4tm1Hmb/Tcf4+
Tmem163Tg(ACTB-cre)2Mrt/Tmem163+
involves: 129P2/OlaHsd * C57BL/6 * FVB/N MGI:6157967
cn2
Bcortm1.1Vjba/Y
Tmem163Tg(ACTB-cre)2Mrt/Tmem163+
involves: 129S1/Sv * C57BL/6N * FVB/N MGI:7343894
cn3
Bcortm1.1Vjba/Bcor+
Tmem163Tg(ACTB-cre)2Mrt/Tmem163+
involves: 129S1/Sv * C57BL/6N * FVB/N MGI:7343893
cn4
Gt(ROSA)26Sortm1(Bcor*A)Vjba/Gt(ROSA)26Sor+
Tmem163Tg(ACTB-cre)2Mrt/Tmem163+
involves: 129S1/Sv * FVB/N MGI:7344054
cn5
Gt(ROSA)26Sortm1Sor/Gt(ROSA)26Sor+
Snrpbem1Lajm/Snrpb+
Tmem163Tg(ACTB-cre)2Mrt/Tmem163+
involves: 129S4/SvJaeSor * C57BL/6J * CD1 * FVB/N MGI:7438186
cn6
Setd5tm1c(EUCOMM)Wtsi/Setd5+
Tbx1tm1Bld/Tbx1+
Tmem163Tg(ACTB-cre)2Mrt/Tmem163+
involves: 129S7/SvEvBrd * C57BL/6 * FVB/N MGI:7543763
cn7
Alktm1.1(ALK*F1174L)Heno/Alktm1.1(ALK*F1174L)Heno
Tmem163Tg(ACTB-cre)2Mrt/Tmem163+
involves: 129X1/SvJ * C57BL/6 * C57BL/6N * FVB/N * SJL MGI:6476978
cn8
Rab23tm1.1Elkg/Rab23tm1.1Elkg
Tmem163Tg(ACTB-cre)2Mrt/Tmem163+
involves: C57BL/6 * FVB/N MGI:8249276
cn9
Dppa2tm1.1Reik/Dppa2+
Tmem163Tg(ACTB-cre)2Mrt/Tmem163+
involves: C57BL/6 * FVB/N MGI:6845061
cn10
Dppa2tm2.1Reik/Dppa2tm2.1Reik
Dppa4tm2.1Reik/Dppa4tm2.1Reik
Tmem163Tg(ACTB-cre)2Mrt/Tmem163+
involves: C57BL/6 * FVB/N MGI:6845063
cn11
Dppa4tm1.1Reik/Dppa4+
Tmem163Tg(ACTB-cre)2Mrt/Tmem163+
involves: C57BL/6 * FVB/N MGI:6845064
cn12
Snrpbem1Lajm/Snrpb+
Tmem163Tg(ACTB-cre)2Mrt/Tmem163+
involves: C57BL/6J * CD1 * FVB/N MGI:7437935
cn13
Setd5tm1c(EUCOMM)Wtsi/Setd5+
Tmem163Tg(ACTB-cre)2Mrt/Tmem163+
involves: C57BL/6N * FVB/N MGI:7543762
cn14
Orc4tm1c(EUCOMM)Wtsi/Orc4tm1c(EUCOMM)Wtsi
Tmem163Tg(ACTB-cre)2Mrt/Tmem163+
involves: C57BL/6N * FVB/N MGI:7314207


Genotype
MGI:6157967
cn1
Allelic
Composition
Tcf4tm1Hmb/Tcf4+
Tmem163Tg(ACTB-cre)2Mrt/Tmem163+
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tcf4tm1Hmb mutation (0 available); any Tcf4 mutation (63 available)
Tmem163Tg(ACTB-cre)2Mrt mutation (3 available); any Tmem163 mutation (37 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body

behavior/neurological
• mice show a similar level of activity at the outset of the task as controls, but the level of activity appears to wane more slowly, indicating a possible deficit in habituation to novel environments
• mice take a longer time to locate the hidden platform in the Morris water maze task and travel farther during the acquisition phase than controls
• during the reversal phase of the hidden platform test, mice never meet the criterion for learning across the entire regimen, and they travel farther than controls
• mice spend more time in the center region of the novel open field during the last 20 min of the trial, indicating reduced anxiety
• in the elevated plus maze task, mice spend more time in the open arms and make more entries into the open arm than closed arm, indicating reduced anxiety
• mice exhibit a reduced startle to a 74 dB stimulus at both 12 and 19 weeks of age
• mice exhibit increased activity and total distance traveled in the open field task
• however, mice exhibit normal motor coordination in the accelerating rotarod and normal sociability in the three-chamber task

nervous system
• NMDA/AMPA current ratio is enhanced and because AMPA receptor-mediated synaptic transmission appears intact, this suggests that NMDAR-mediated currents are selectively enhanced
• mice exhibit enhanced long term potentiation (LTP) after 3 1 second bursts of 100 Hz stimulation and LTP is consistently enhanced over a range of stimulation frequencies
• however, no differences are seen in long term depression (LTD) after 15 min of 1 Hz stimulation, presynaptic function and AMPA receptor-mediated synaptic transmission appear normal in hippocampal area CA1, and short-term plasticity in terms of the paired-pulse ratio appears normal
• percentage prepulse inhibition is decreased in 19 week old mice but not 12-week old mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Pitt-Hopkins syndrome DOID:0060488 OMIM:610954
J:254983




Genotype
MGI:7343894
cn2
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 (19 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
• 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
• 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
cn3
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 (19 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
• Background Sensitivity: when backcrossed to a C57BL/6N background
• 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%
• vast majority of embryos are dead by E12.5 when the recombined allele is maternally inherited

embryo
• at E8.5 and E10.5 when the recombined allele is maternally inherited
• increase in maternal blood near the trophoblast giant cell layer when the allele is maternally inherited
• 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
• trophoblast giant cells appear to invade the spongiotrophoblast layer when the recombined allele is maternally inherited
• at E12.5 appear to have more blood relative to controls when the recombined allele is maternally inherited
• thinner in placental midpoint sections when the recombined allele is maternally inherited

craniofacial
• clefting in 32% (7 of 22) of late gestation females
• occasional
• occasional

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

skeleton
• most obvious in older mice
• no obvious wedging of the vertebral discs

limbs/digits/tail
• all survivors have kinked tails

digestive/alimentary system
• clefting in 32% (7 of 22) of late gestation females

growth/size/body
• clefting in 32% (7 of 22) of late gestation females
• occasional
• occasional
• 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




Genotype
MGI:7344054
cn4
Allelic
Composition
Gt(ROSA)26Sortm1(Bcor*A)Vjba/Gt(ROSA)26Sor+
Tmem163Tg(ACTB-cre)2Mrt/Tmem163+
Genetic
Background
involves: 129S1/Sv * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1(Bcor*A)Vjba mutation (1 available); any Gt(ROSA)26Sor mutation (1060 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
• embryos die between E10.5 and E14.5 with all dead by E14.5

craniofacial
• short and misshapen
• short and misshapen

vision/eye
• misshapen by E12.5

limbs/digits/tail
• small and misshapen by E13.5

nervous system
• appears bulbous

skeleton
• short and misshapen

growth/size/body
• short and misshapen
• short and misshapen




Genotype
MGI:7438186
cn5
Allelic
Composition
Gt(ROSA)26Sortm1Sor/Gt(ROSA)26Sor+
Snrpbem1Lajm/Snrpb+
Tmem163Tg(ACTB-cre)2Mrt/Tmem163+
Genetic
Background
involves: 129S4/SvJaeSor * C57BL/6J * CD1 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1Sor mutation (10 available); any Gt(ROSA)26Sor mutation (1060 available)
Snrpbem1Lajm mutation (0 available); any Snrpb mutation (16 available)
Tmem163Tg(ACTB-cre)2Mrt mutation (3 available); any Tmem163 mutation (37 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
embryo
• in the developing head region at E9.5
• decrease in the proportion of reporter expressing cells in the cranial region at E10.5 a some embryos

cellular
• in the developing head region at E9.5

nervous system
• decrease in the proportion of reporter expressing cells in the cranial region at E10.5 a some embryos




Genotype
MGI:7543763
cn6
Allelic
Composition
Setd5tm1c(EUCOMM)Wtsi/Setd5+
Tbx1tm1Bld/Tbx1+
Tmem163Tg(ACTB-cre)2Mrt/Tmem163+
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Setd5tm1c(EUCOMM)Wtsi mutation (0 available); any Setd5 mutation (125 available)
Tbx1tm1Bld mutation (1 available); any Tbx1 mutation (36 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
N
• double heterozygotes are recovered at normal Mendelian ratios at E14.5

cardiovascular system
• at E14.5, 21% of double heterozygotes exhibit an aberrant right subclavian artery
• at E14.5, 57% of double heterozygotes show OFT rotational defects, including DORV and overriding aorta
• however, no common arterial trunk is identified at E14.5
• at E14.5, 86% of double heterozygotes exhibit a perimembranous VSD




Genotype
MGI:6476978
cn7
Allelic
Composition
Alktm1.1(ALK*F1174L)Heno/Alktm1.1(ALK*F1174L)Heno
Tmem163Tg(ACTB-cre)2Mrt/Tmem163+
Genetic
Background
involves: 129X1/SvJ * C57BL/6 * C57BL/6N * FVB/N * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alktm1.1(ALK*F1174L)Heno mutation (0 available); any Alk mutation (66 available)
Tmem163Tg(ACTB-cre)2Mrt mutation (3 available); any Tmem163 mutation (37 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• size of the sympathetic ganglia (stellate ganglia) is larger at E13.5

neoplasm
N
• mice show no overt signs of tumorigenesis




Genotype
MGI:8249276
cn8
Allelic
Composition
Rab23tm1.1Elkg/Rab23tm1.1Elkg
Tmem163Tg(ACTB-cre)2Mrt/Tmem163+
Genetic
Background
involves: C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rab23tm1.1Elkg mutation (0 available); any Rab23 mutation (33 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

growth/size/body
• growth retardation is seen at E18.5

cellular
• mice show cell-type specific ciliary abnormalities in chondrocytes, mouse embryonic fibroblasts (MEFs), and neocortical neurons, but not in epithelial cells or cerebellar granule cells
• decrease in the number of cells bearing primary cilium in the cerebral cortex, including the Tbr1-expressing cortical intermediate progenitors at E18.5
• chondrocytes show a 16.75% reduction in primary cilia length, although the change in prevalence of ciliation is not seen in E18.5 embryos
• MEFs exhibit unchanged primary cilia length but show a reduced ciliation frequency
• however, normal prevalence of ciliation is seen in Pax6-expressing granule cell precursors in the cerebellar anlage and in E-cadherin-expressing epithelial cells lining the dermal layer

craniofacial
• craniofacial anomalies are seen at E18.5

embryo
• E12.5 embryos have an aberrant posterior neural tube

limbs/digits/tail
• 85.7% prevalence of polysyndactyly is seen at E12.5

nervous system
• E12.5 embryos have an aberrant posterior neural tube
• embryos exhibit a range of brain anomalies, varying from mild to severe, at E18.5
• milder cases of brain anomalies include altered pattern of the cerebellar anlage at E18.5
• milder cases of brain anomalies display thinning and mis-patterning of the cerebral cortex
• milder cases of brain anomalies display thinning of the cerebral cortex

skeleton
• chondrocytes show a 16.75% reduction in primary cilia length, although the change in prevalence of ciliation is not seen in E18.5 embryos

vision/eye
• E12.5 embryos have missing or abnormal eyes
• some E12.5 embryos have missing eyes

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Carpenter syndrome 1 DOID:0061098 OMIM:201000
J:371856




Genotype
MGI:6845061
cn9
Allelic
Composition
Dppa2tm1.1Reik/Dppa2+
Tmem163Tg(ACTB-cre)2Mrt/Tmem163+
Genetic
Background
involves: C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dppa2tm1.1Reik mutation (0 available); any Dppa2 mutation (27 available)
Tmem163Tg(ACTB-cre)2Mrt mutation (3 available); any Tmem163 mutation (37 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• fewer than expected mice are produced in the absence of maternal and zygotic Dppa2 and Dppa4 expression with high lethality by P3




Genotype
MGI:6845063
cn10
Allelic
Composition
Dppa2tm2.1Reik/Dppa2tm2.1Reik
Dppa4tm2.1Reik/Dppa4tm2.1Reik
Tmem163Tg(ACTB-cre)2Mrt/Tmem163+
Genetic
Background
involves: C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dppa2tm2.1Reik mutation (0 available); any Dppa2 mutation (27 available)
Dppa4tm2.1Reik mutation (0 available); any Dppa4 mutation (31 available)
Tmem163Tg(ACTB-cre)2Mrt mutation (3 available); any Tmem163 mutation (37 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• fewer than expected mice are produced in the absence of maternal and zygotic Dppa2 and Dppa4 expression with high lethality by P3
• however, female mice mated to wild-type male mice exhibit embryos that develop normal blastocysts




Genotype
MGI:6845064
cn11
Allelic
Composition
Dppa4tm1.1Reik/Dppa4+
Tmem163Tg(ACTB-cre)2Mrt/Tmem163+
Genetic
Background
involves: C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dppa4tm1.1Reik mutation (0 available); any Dppa4 mutation (31 available)
Tmem163Tg(ACTB-cre)2Mrt mutation (3 available); any Tmem163 mutation (37 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• mice mated to null male mice exhibit loss of offspring prior to or immediately after birth




Genotype
MGI:7437935
cn12
Allelic
Composition
Snrpbem1Lajm/Snrpb+
Tmem163Tg(ACTB-cre)2Mrt/Tmem163+
Genetic
Background
involves: C57BL/6J * CD1 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Snrpbem1Lajm mutation (0 available); any Snrpb mutation (16 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
• no heterozygotes are found at birth but are present at E8.5




Genotype
MGI:7543762
cn13
Allelic
Composition
Setd5tm1c(EUCOMM)Wtsi/Setd5+
Tmem163Tg(ACTB-cre)2Mrt/Tmem163+
Genetic
Background
involves: C57BL/6N * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Setd5tm1c(EUCOMM)Wtsi mutation (0 available); any Setd5 mutation (125 available)
Tmem163Tg(ACTB-cre)2Mrt mutation (3 available); any Tmem163 mutation (37 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• at E14.5, 50% of heterozygotes show outflow tract (OFT) rotational defects (OFT fails to align with the two future ventricles at the looping stage), including DORV and overriding aorta
• however, OFT septation is normal; no aberrant right subclavian artery or common arterial trunk are identified at E14.5
• at E14.5, 75% of heterozygotes exhibit a perimembranous VSD




Genotype
MGI:7314207
cn14
Allelic
Composition
Orc4tm1c(EUCOMM)Wtsi/Orc4tm1c(EUCOMM)Wtsi
Tmem163Tg(ACTB-cre)2Mrt/Tmem163+
Genetic
Background
involves: C57BL/6N * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Orc4tm1c(EUCOMM)Wtsi mutation (0 available); any Orc4 mutation (54 available)
Tmem163Tg(ACTB-cre)2Mrt mutation (3 available); any Tmem163 mutation (37 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• MII oocytes are poorly developed
• reduced polar body extrusion
• half of cultured oocytes arrest at the germinal vesicle, meiosis I, or anaphase I stages
• MII oocytes progress to the two-cell stage without DNA synthesis
• infertility cannot be rescued by intracytoplasmic sperm injection

cellular
• MII oocytes are poorly developed
• reduced polar body extrusion
• half of cultured oocytes arrest at the germinal vesicle, meiosis I, or anaphase I stages
• MII oocytes progress to the two-cell stage without DNA synthesis





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last database update
12/30/2025
MGI 6.24
The Jackson Laboratory