Phenotypes associated with this allele

• Allele Symbol: Atrx^tm1Rjg
• Allele Name: targeted mutation 1, Richard Gibbons
• Allele ID: MGI:3528480
• Summary: 7 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Atrx^tm1Rjg/Y Rb1^tm3Tyj/Rb1^tm3Tyj Trp53^tm1Brn/Trp53^tm1Brn Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0	involves: 129P2/OlaHsd * 129S4/SvJae * CD-1	MGI:7482548
cn2	Atrx^tm1Rjg/Atrx^tm1Rjg Rb1^tm3Tyj/Rb1^tm3Tyj Trp53^tm1Brn/Trp53^tm1Brn Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0	involves: 129P2/OlaHsd * 129S4/SvJae * CD-1	MGI:7482547
cn3	Atrx^tm1Rjg/Atrx^+ Tg(Gata1-cre)1Sho/0	involves: 129P2/OlaHsd * C57BL/6 * CD-1	MGI:3696951
cn4	Atrx^tm1Rjg/Y Tg(Gata1-cre)1Sho/0	involves: 129P2/OlaHsd * C57BL/6 * CD-1	MGI:3696950
cn5	Atrx^tm1Rjg/Y Foxg1^tm1(cre)Skm/Foxg1^+	involves: 129P2/OlaHsd * C57BL/6 * FVB/N	MGI:3530074
cn6	Atrx^tm1Rjg/Y Tg(Pax6-cre,GFP)2Pgr/0	involves: 129P2/OlaHsd * C57BL/6 * FVB/N	MGI:3834848
cn7	Atrx^tm1Rjg/Y Tg(Nes-cre)2472Pick/0	involves: 129P2/OlaHsd * C57BL/6 * FVB/N	MGI:3530076

Genotype
MGI:7482548

cn1

• Allelic Composition: Atrx^tm1Rjg/Y; Rb1^tm3Tyj/Rb1^tm3Tyj; Trp53^tm1Brn/Trp53^tm1Brn; Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0
• Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * CD-1

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

neoplasm

increased osteosarcoma incidence ( J:329449 )

♂ • tumor formation occurs at an earlier age compared to mutant mice wild-type for Atrx

decreased tumor latency ( J:329449 )

♂ • increase in the rate of osteosarcoma initiation compared to mutant mice wild-type for Atrx

skeleton

increased osteosarcoma incidence ( J:329449 )

♂ • tumor formation occurs at an earlier age compared to mutant mice wild-type for Atrx

Genotype
MGI:7482547

cn2

• Allelic Composition: Atrx^tm1Rjg/Atrx^tm1Rjg; Rb1^tm3Tyj/Rb1^tm3Tyj; Trp53^tm1Brn/Trp53^tm1Brn; Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0
• Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * CD-1

neoplasm

increased osteosarcoma incidence ( J:329449 )

♀ • tumor formation occurs at an earlier age compared to mutant mice wild-type for Atrx

decreased tumor latency ( J:329449 )

♀ • increase in the rate of osteosarcoma initiation compared to mutant mice wild-type for Atrx

skeleton

increased osteosarcoma incidence ( J:329449 )

♀ • tumor formation occurs at an earlier age compared to mutant mice wild-type for Atrx

Genotype
MGI:3696951

cn3

• Allelic Composition: Atrx^tm1Rjg/Atrx⁺; Tg(Gata1-cre)1Sho/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CD-1

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:115836 )

♀ • fewer than expected found at E9.5; however, unlike hemizygous males some females do survive

reproductive system

abnormal reproductive system physiology ( J:115836 )

♀ • some surviving females can reproduce

behavior/neurological

abnormal behavior ( J:115836 )

♀ • surviving females display mild behavioral abnormalities

cellular

abnormal imprinting ( J:115836 )

♀ • in surviving females expression of the paternal wild-type allele is seen in extraembryonic tissues; however, random X inactivation in the embryo is normal

Genotype
MGI:3696950

cn4

• Allelic Composition: Atrx^tm1Rjg/Y; Tg(Gata1-cre)1Sho/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CD-1

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:115836 )

♂ • the expected number of males are detected at E8.5 but fewer than expected are found at E9.5 and no males are found after E9.5

embryo

embryonic growth retardation ( J:115836 )

♂ • at E7.5

decreased embryo size ( J:115836 )

♂ • at E7.5

abnormal trophectoderm morphology ( J:115836 )

♂ • dramatic reduction in trophectoderm surrounding the embryo at E8.5

decreased trophoblast giant cell number ( J:115836 )

♂ • reduced numbers of terminally differentiated trophoblast giant cells at E7.5 and E8.5

♂ • defect is in formation of secondary trophoblast cells; however, development of primary cells is similar to wild-type

abnormal ectoplacental cone morphology ( J:115836 )

♂ • abnormally shaped at E8.5

small ectoplacental cone ( J:115836 )

♂ • reduced in size at E8.5

disorganized extraembryonic tissue ( J:115836 )

♂ • highly disorganized; however overall morphology of the embryonic tissues is similar to wild-type

growth/size/body

embryonic growth retardation ( J:115836 )

♂ • at E7.5

decreased embryo size ( J:115836 )

♂ • at E7.5

cellular

decreased cell proliferation ( J:115836 )

♂ • significant decrease in the number of mitotic cells at E7.5

Genotype
MGI:3530074

cn5

• Allelic Composition: Atrx^tm1Rjg/Y; Foxg1^tm1(cre)Skm/Foxg1⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

mortality/aging

postnatal lethality, complete penetrance ( J:95953 )

♂ • mutant males die within 24 - 48 hours of birth, with only 1 male surviving to 24 days of age

behavior/neurological

absent gastric milk in neonates ( J:95953 )

♂ • mutant males lack milk in their stomachs

abnormal suckling behavior ( J:95953 )

♂ • mutant males do not suckle well

growth/size/body

decreased birth body size ( J:95953 )

♂ • mutants are smaller at birth

nervous system

absent dentate gyrus ( J:95953 )

♂ • the dentate gyrus is replaced by a mass of disorganized cells

decreased hippocampus pyramidal cell number ( J:95953 )

♂ • reduced numbers of CA1 and CA3 pyramidal neurons are seen

loss of hippocampal neurons ( J:95953 )

♂ • the subiculum and hippocampus are reduced in size

loss of cortex neurons ( J:95953 )

♂ • the frontal cortex is reduced in size especially in the caudal-medial cortex and cell density is decreased in the cortex as a result of increased cell death and not a change in proliferation

♂ • cell numbers in the cortical plate are reduced by 20-30%

♂ • cell loss is not seen at E13.5 but is significant at E15.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
alpha thalassemia-X-linked intellectual disability syndrome		DOID:0110030	OMIM:301040	J:95953

Genotype
MGI:3834848

cn6

• Allelic Composition: Atrx^tm1Rjg/Y; Tg(Pax6-cre,GFP)2Pgr/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

vision/eye

abnormal retina morphology ( J:145002 )

♂ • pericellular varicosities in the retina are significantly reduced compared to in wild-type mice indicating a disturbance in the dopaminergic network

decreased amacrine cell number ( J:145002 )

♂ • between P10 and P17, mice exhibit a loss of amacrine cells

♂ • adult mice exhibit a 34% reduction in the number of amacrine cells found in the peripheral retina compared to in wild-type mice

♂ • mice exhibit a reduction in the number of multiple subtypes of amacrine neurons compared to in wild-type mice

♂ • however, embryonic development of amacrine cells is normal

abnormal retina horizontal cell morphology ( J:145002 )

♂ • loss of horizontal cells after P5

♂ • adult mice exhibit a 37% decrease in horizontal cells compared to in wild-type retinas

abnormal retina ganglion layer morphology ( J:145002 )

♂ • cellularity is reduced 15% while the number of ganglion cells is normal

abnormal retina inner nuclear layer morphology ( J:145002 )

♂ • cellularity is reduced 25% with the numbers of Muller, bipolar and photoreceptor cells are normal

abnormal eye electrophysiology ( J:145002 )

♂ • the b-wave is reduced 30% at the five highest light intensities tested compared to in wild-type mice

♂ • oscillatory potentials are reduced in amplitude at multiple light intensities compared to in wild-type mice

♂ • however, the a-wave is normal

nervous system

decreased amacrine cell number ( J:145002 )

♂ • between P10 and P17, mice exhibit a loss of amacrine cells

♂ • adult mice exhibit a 34% reduction in the number of amacrine cells found in the peripheral retina compared to in wild-type mice

♂ • mice exhibit a reduction in the number of multiple subtypes of amacrine neurons compared to in wild-type mice

♂ • however, embryonic development of amacrine cells is normal

abnormal retina horizontal cell morphology ( J:145002 )

♂ • loss of horizontal cells after P5

♂ • adult mice exhibit a 37% decrease in horizontal cells compared to in wild-type retinas

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
alpha thalassemia-X-linked intellectual disability syndrome		DOID:0110030	OMIM:301040	J:145002

Genotype
MGI:3530076

cn7

• Allelic Composition: Atrx^tm1Rjg/Y; Tg(Nes-cre)2472Pick/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

mortality/aging

postnatal lethality, incomplete penetrance ( J:95953 )

♂ • reduced postnatal survival similar to Atrx hemizygotes that are heterozygous for Foxg1^tm1(cre)Skm

growth/size/body

decreased birth body size ( J:95953 )

♂ • mutants are smaller at birth

nervous system

loss of hippocampal neurons ( J:95953 )

♂ • not as severe as in Atrx hemizygotes that are heterozygous for Foxg1^tm1(cre)Skm

loss of cortex neurons ( J:95953 )

♂ • the frontal cortex is reduced in size especially in the caudal-medial cortex similar to Atrx hemizygotes that are heterozygous for Foxg1^tm1(cre)Skm but the severity of loss is decreased

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
alpha thalassemia-X-linked intellectual disability syndrome		DOID:0110030	OMIM:301040	J:95953