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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ext1tm1Yama
targeted mutation 1, Yu Yamaguchi
MGI:2682061
Summary 7 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Ext1tm1Yama/Ext1tm1Yama B6.129S5-Ext1tm1Yama MGI:4360748
cn2
Ext1tm1Yama/Ext1tm1Yama
Tg(Wnt1-cre)11Rth/0
B6.Cg-Ext1tm1Yama Tg(Wnt1-cre)11Rth MGI:4360747
cn3
Ext1tm1Yama/Ext1+
Tg(Wnt1-cre)11Rth/0
Tgfb2tm1Doe/Tgfb2+
B6.Cg-Tgfb2tm1Doe Ext1tm1Yama Tg(Wnt1-cre)11Rth MGI:4360749
cn4
Ext1tm1Yama/Ext1+
Slit2tm1Matl/Slit2tm1Matl
Tg(Nes-cre)1Kln/0
involves: 129S2/SvPas * 129S5/SvEvBrd * C57BL/6 * SJL MGI:2682063
cn5
Ext1tm1Yama/Ext1tm1Yama
Tg(Camk2a-cre)2834Lusc/0
involves: 129S5/SvEvBrd * C57BL/6 MGI:5316488
cn6
Ext1tm1Yama/Ext1tm1Yama
Tg(Nes-cre)1Kln/0
involves: 129S5/SvEvBrd * C57BL/6 * SJL MGI:2682062
cn7
Ext1tm1Yama/Ext1tm1Yama
Tg(Col2a1-cre/ERT)KA3Smac/0
involves: 129S5/SvEvBrd * FVB/N MGI:4818630


Genotype
MGI:4360748
cn1
Allelic
Composition
Ext1tm1Yama/Ext1tm1Yama
Genetic
Background
B6.129S5-Ext1tm1Yama
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ext1tm1Yama mutation (0 available); any Ext1 mutation (33 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
embryo
• periocular neural crest cells transfected with an adeno-cre exhibit reduced proliferation compared with similarly treated wild-type cells but not as much as in Tgfb2tm1Doe homozygous cells

cellular
• periocular neural crest cells transfected with an adeno-cre exhibit reduced proliferation compared with similarly treated wild-type cells but not as much as in Tgfb2tm1Doe homozygous cells




Genotype
MGI:4360747
cn2
Allelic
Composition
Ext1tm1Yama/Ext1tm1Yama
Tg(Wnt1-cre)11Rth/0
Genetic
Background
B6.Cg-Ext1tm1Yama Tg(Wnt1-cre)11Rth
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ext1tm1Yama mutation (0 available); any Ext1 mutation (33 available)
Tg(Wnt1-cre)11Rth mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Craniofacial malformation in Ext1tm1Yama/Ext1tm1YamaTg(Wnt1-cre)11Rth/0 mice

mortality/aging
• all mice die within the first day of birth

vision/eye
• mice exhibit eye morphology defects
• however, lens thickness is normal
• 58% of mutant mice exhibit ciliary body coloboma
• at E18.5, 99% of mutant mice exhibit ventral iris coloboma
• the corneal stroma lacks collagen staining unlike in wild-type mice

craniofacial

hearing/vestibular/ear

embryo
• at E15.5, neural crest cell proliferation is reduced compared to in wild-type mice
• however, neural crest cell migration into the periocular mesenchyme at E11.5 and levels of apoptosis are normal

digestive/alimentary system

cellular
• at E15.5, neural crest cell proliferation is reduced compared to in wild-type mice
• however, neural crest cell migration into the periocular mesenchyme at E11.5 and levels of apoptosis are normal

growth/size/body




Genotype
MGI:4360749
cn3
Allelic
Composition
Ext1tm1Yama/Ext1+
Tg(Wnt1-cre)11Rth/0
Tgfb2tm1Doe/Tgfb2+
Genetic
Background
B6.Cg-Tgfb2tm1Doe Ext1tm1Yama Tg(Wnt1-cre)11Rth
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ext1tm1Yama mutation (0 available); any Ext1 mutation (33 available)
Tgfb2tm1Doe mutation (1 available); any Tgfb2 mutation (9 available)
Tg(Wnt1-cre)11Rth mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Thin cornea and iridocorneal dysgenesis in Ext1tm1Yama/Ext1+ Tg(Wnt1-cre)11Rth/0 Tgfb2tm1Doe/Tgfb2+ mice

mortality/aging
N
• mice survive into adulthood

vision/eye
• mice exhibit defects in components of the aqueous drainage system
• however, the iridocorneal angle is normal
• the trabecular beam contains fewer cells than in wild-type mice
• mice exhibit ocular hypertension unlike single heterozygotes




Genotype
MGI:2682063
cn4
Allelic
Composition
Ext1tm1Yama/Ext1+
Slit2tm1Matl/Slit2tm1Matl
Tg(Nes-cre)1Kln/0
Genetic
Background
involves: 129S2/SvPas * 129S5/SvEvBrd * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ext1tm1Yama mutation (0 available); any Ext1 mutation (33 available)
Slit2tm1Matl mutation (2 available); any Slit2 mutation (39 available)
Tg(Nes-cre)1Kln mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• 59-67% of retinal axons project ectopically into the contralateral optic nerve

cellular
• 59-67% of retinal axons project ectopically into the contralateral optic nerve




Genotype
MGI:5316488
cn5
Allelic
Composition
Ext1tm1Yama/Ext1tm1Yama
Tg(Camk2a-cre)2834Lusc/0
Genetic
Background
involves: 129S5/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ext1tm1Yama mutation (0 available); any Ext1 mutation (33 available)
Tg(Camk2a-cre)2834Lusc mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• in the elevated plus maze, mutants spend more than half the session time on the open arms and moved freely on them compared to wild-type mice that remain mostly on the closed arms, indicating reduced fear of height
• in the light/dark box text, mutants spent more time in the brightly illuminated space than wild-type mice, although the number of transitions between light and dark spaces did not differ
• in the open-field test, mutants spend a longer time in the central area than wild-type mice and exhibit higher levels of locomotor activity, indicating reduced fear of open spaces
• in the elevated plus maze, mutants spend more than half the session time on the open arms and moved freely on them compared to wild-type mice that remain mostly on the closed arms, indicating reduced fear of height
• in the light/dark box text, mutants spent more time in the brightly illuminated space than wild-type mice, although the number of transitions between light and dark spaces did not differ
• in the open-field test, mutants spend a longer time in the central area than wild-type mice and exhibit higher levels of locomotor activity, indicating reduced fear of open spaces
• in the open-field test, mutants exhibit higher levels of locomotor activity
• in the hole-board test, while wild-type mice explore different holes in a random or successive manner, mutants show a tendency towards making repeated head-dips into the same hole, indicating stereotyped dip behavior; occurrence of stereotypic dip was significantly greater, however the total number of head-dips did not differ from wild-type
• mutants show a tendency to perform consecutive head-dips of more than 4 repetitions, a behavior not seen in wild-type mice
• however, mutants do not exhibit spontaneous stereotypic behavior such as jumping, circling, paw flapping or self-grooming
• in the hot plate test, mutants exhibit shorter latency to respond to thermal stimuli indicating sensory hypersensitivity
• mutants exhibit reduced nest-building activity
• in a separation-reunion test with siblings, mutants show less interactions with siblings after reunion
• in the resident-intruder test, while wild-type mice explore the intruder extensively, mutants seldom chase the intruder and instead frequently show behaviors of avoidance, such as freezing and moving away
• in the social dominance tube test, mutants almost always retreat out of the tube and lose
• ultrasonic vocalization emitted by mutants is reduced significantly in terms of number, duration, and amplitude of calls in response to female odor compared to wild-type mice
• complexity of ultrasonic vocalization is reduced compared to wild-type mice

integument
• in the hot plate test, mutants exhibit shorter latency to respond to thermal stimuli indicating sensory hypersensitivity

nervous system
• excitatory synaptic transmission is altered in amygdala neurons
• however, mutants do not exhibit overt abnormalities in the overall morphology of the amygdala or in the morphology of dendritic arbors and spines in pyramidal neurons of the basolateral amygdala
• mutants exhibit depressed input-output curve of compound excitatory postsynaptic currents (EPSCs) in the basolateral amygdala
• mutants exhibit reduced AMPA receptor-mediated synaptic strength in basolateral amygdala neurons
• frequency of mEPSCs is reduced in mutant basolateral amygdala pyramidal neurons
• amplitude of mEPSCs is reduced in basolateral amygdala neurons, indicating that AMPA receptor-mediated postsynaptic activity is reduced
• however, neither the rising nor the decay of time of mEPSCs is altered, indicating that channel kinetics of AMPA receptors is preserved




Genotype
MGI:2682062
cn6
Allelic
Composition
Ext1tm1Yama/Ext1tm1Yama
Tg(Nes-cre)1Kln/0
Genetic
Background
involves: 129S5/SvEvBrd * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ext1tm1Yama mutation (0 available); any Ext1 mutation (33 available)
Tg(Nes-cre)1Kln mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• all mice die within 1 day of birth

nervous system
• 60-67% of retinal axons project ectopically into the contralateral optic nerve
• axons from the cortex fail to approach the midline and instead extend ventrally unlike wild-type axons that turn to the midline and cross toward the contralateral side
• axons emerging from the external capsule extend straight toward the ventral surface of the forebrain instead of turning towards the midline to form the anterior commissure
• differentiation of the caudal midbrain and cerebellum initiated but failed to form the distinct inferior colliculus and cerebellum
• absence of the major commissure tracts
• overall size and thickness is reduced
• cell proliferation in the cortex is reduced by about 30% compared with controls

cellular
• 60-67% of retinal axons project ectopically into the contralateral optic nerve
• axons from the cortex fail to approach the midline and instead extend ventrally unlike wild-type axons that turn to the midline and cross toward the contralateral side
• axons emerging from the external capsule extend straight toward the ventral surface of the forebrain instead of turning towards the midline to form the anterior commissure




Genotype
MGI:4818630
cn7
Allelic
Composition
Ext1tm1Yama/Ext1tm1Yama
Tg(Col2a1-cre/ERT)KA3Smac/0
Genetic
Background
involves: 129S5/SvEvBrd * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ext1tm1Yama mutation (0 available); any Ext1 mutation (33 available)
Tg(Col2a1-cre/ERT)KA3Smac mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• without tamoxifen treatment, mice exhibit multiple hereditary exostose-like skeletal defects unlike wild-type mice
• mice exhibit subluxation/dislocation of the radius unlike wild-type mice
• 92% of mice exhibit bowing of the radius and subluxation/dislocation of the radial head unlike wild-type mice
• at P14, mice exhibit an increase in the width of the distal radius compared to wild-type mice
• at P14, mice exhibit an increase in the width of the distal ulna compared to wild-type mice
• without tamoxifen treatment, all mice develop osteochondroma in the humerus, radius, ulna, digits, femur, tibia, fibula, vertebrae, and rib bones unlike wild-type mice
• at P7 to P28 in the ribs
• at P14 in the distal femur
• osteochondromas resemble ectopic growth plates rather than true neoplasm
• in 58% of mice
• mice exhibit bony protrusions with a cartilage cap in the wrist, fibula, shoulder, and rib unlike wild-type mice
• at P14, mice exhibit exostosis unlike wild-type mice
• at P28, mice exhibit multiple protrusions closely resembling osteochondroma unlike in wild-type mice
• mice exhibit mild abnormalities of the joint cartilage unlike wild-type mice
• at P14,formation of cartilage occurs in abnormal location compared to in wild-type mice
• at P21, mice exhibit overgrowth and deformity of the cartilage compared with wild-type mice and small cartilaginous islands for in the epiphysis
• mild
• at P21, mice exhibit small cartilaginous islands for in the epiphysis unlike in wild-type mice

neoplasm
• without tamoxifen treatment, all mice develop osteochondroma in the humerus, radius, ulna, digits, femur, tibia, fibula, vertebrae, and rib bones unlike wild-type mice
• at P7 to P28 in the ribs
• at P14 in the distal femur
• osteochondromas resemble ectopic growth plates rather than true neoplasm

growth/size/body

limbs/digits/tail
• mice exhibit bowing of the forearm unlike wild-type mice
• mice exhibit subluxation/dislocation of the radius unlike wild-type mice
• 92% of mice exhibit bowing of the radius and subluxation/dislocation of the radial head unlike wild-type mice
• at P14, mice exhibit an increase in the width of the distal radius compared to wild-type mice
• at P14, mice exhibit an increase in the width of the distal ulna compared to wild-type mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
hereditary multiple exostoses DOID:206 OMIM:133700
OMIM:133701
OMIM:600209
J:161395





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last database update
05/16/2017
MGI 6.09
The Jackson Laboratory