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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Isl1+
wild type
MGI:2432879
Summary 41 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
 		\Isl1Drsh/\Isl1+ C3HeB/FeJ-Isl1Drsh MGI:5523701
ht2
 		\Isl1tm3Sev/\Isl1+ involves: C57BL/6J MGI:4419013
cn3
 		\Bmp4tm4Blh/\Bmp4tm4Blh
\Isl1tm1(cre)Sev/\Isl1+ 		involves: 129 * 129S6/SvEvTac MGI:5642272
cn4
 		\Hand2tm1Dsr/\Hand2tm2.1Dsr
\Isl1tm1(cre)Tmj/\Isl1+ 		involves: 129 * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6 MGI:4940090
cn5
 		\Isl1tm1(cre)Tmj/\Isl1+
\Zfp503tm1Lif/\Zfp503tm1Lif
\Tg(CAG-cat,-EGFP)1Rbns/0 		involves: 129 * 129X1/SvJ * C57BL/6 * C57BL/6J MGI:7606915
cn6
 		\Rspo3tm1Arte/\Rspo3tm1Arte
\Isl1tm1(cre)Sev/\Isl1+ 		involves: 129 * C57BL/6 MGI:5643693
cn7
 		\Nkx2-5tm1Krc/\Nkx2-5tm1Krc
\Isl1tm1(cre)Sev/\Isl1+ 		involves: 129 * C57BL/6 MGI:5643691
cn8
 		\Isl1tm1(cre)Sev/\Isl1+
\Pax9tm1Rbal/\Pax9tm1.1Hpt 		involves: 129 * C57BL/6J MGI:7294563
cn9
 		\Isl1tm1(cre)Sev/\Isl1+
\Msx1tm1Rilm/\Msx1+
\Pax9tm1Rbal/\Pax9tm1.1Hpt 		involves: 129 * CD-1 MGI:7294564
cn10
 		\Isl1tm1(cre)Tmj/\Isl1+
\Mapttm1(Ewsr1/Etv4)Arbr/\Mapt+ 		involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3716103
cn11
 		\Juntm4Wag/\Juntm4Wag
\Isl1tm1(cre)Sev/\Isl1+ 		involves: 129P2/OlaHsd * 129S/Sv MGI:7562242
cn12
 		\Juntm1Pa/\Juntm4Wag
\Isl1tm1(cre)Sev/\Isl1+ 		involves: 129P2/OlaHsd * 129S/Sv * 129X1/SvJ * C57BL/6J MGI:7562004
cn13
 		\Nrg1tm1Cbm/\Nrg1tm3Cbm
\Isl1tm1(cre)Tmj/\Isl1+ 		involves: 129P2/OlaHsd * 129X1/SvJ MGI:2653523
cn14
 		\Casz1tm1.1Flc/\Casz1tm1.1Flc
\Isl1tm1(cre)Tmj/\Isl1+ 		involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6 * C57BL/6J * SJL MGI:5811826
cn15
 		\Maftm1.1Cbm/\Maftm2.1Cbm
\Isl1tm1(cre)Tmj/\Isl1+ 		involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6 * SJL MGI:5316895
cn16
 		\Bcortm1.1Vjba/\Bcor+
\Isl1tm1(cre)Sev/\Isl1+ 		involves: 129S1/Sv MGI:7343919
cn17
 		\Bcortm1.1Vjba/Y
\Isl1tm1(cre)Sev/\Isl1+ 		involves: 129S1/Sv MGI:7343918
cn18
 		\Dll4tm1Frad/\Dll4+
\Isl1tm1(cre)Tmj/\Isl1+ 		involves: 129S1/Sv * 129X1/SvJ MGI:7545577
cn19
 		\Isl1tm1(cre)Tmj/\Isl1+
\Shc1tm9Paw/\Shc1tm9.1Paw 		involves: 129S1/Sv * 129X1/SvJ MGI:3717101
cn20
 		\Isl1tm1(cre)Tmj/\Isl1+
\Shc1tm9Paw/\Shc1tm9Paw 		involves: 129S1/Sv * 129X1/SvJ MGI:3717100
cn21
 		\Brsk2tm2.1Jrs/\Brsk2tm2.1Jrs
\Isl1tm1(cre)Tmj/\Isl1+ 		involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL MGI:5524148
cn22
 		\Isl1tm1(cre)Tmj/\Isl1+
\Phox2btm3.1Jbr/\Phox2btm3.1Jbr 		involves: 129S2/SvPas * 129X1/SvJ MGI:4438214
cn23
 		\Phox2btm3.1Jbr/\Phox2btm3.1Jbr
\Isl1tm1(cre)Tmj/\Isl1+ 		involves: 129S2/SvPas * 129X1/SvJ * C57BL/6 * DBA/2 MGI:4418306
cn24
 		\Bmpr1atm2.1Bhr/\Bmpr1atm2.2Bhr
\Isl1tm1(cre)Sev/\Isl1+ 		involves: 129S4/SvJae * 129S7/SvEvBrd MGI:3625139
cn25
 		\Dvl3tm1Awb/\Dvl3tm1Awb
\Gt(ROSA)26Sortm1Sor/\Gt(ROSA)26Sor+
\Isl1tm1(cre)Sev/\Isl1+ 		involves: 129S4/SvJaeSor * 129S6/SvEvTac * Black Swiss MGI:3831923
cn26
 		\Hand2tm1Dsr/\Hand2tm2.1Dsr
\Gt(ROSA)26Sortm1Sor/\Gt(ROSA)26Sor+
\Isl1tm1(cre)Tmj/\Isl1+ 		involves: 129S4/SvJaeSor * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6 MGI:4940091
cn27
 		\Stk11tm1.1Rdp/\Stk11tm1.1Rdp
\Isl1tm1(cre)Tmj/\Isl1+ 		involves: 129S6/SvEvTac * 129X1/SvJ MGI:5524150
cn28
 		\Isl1tm1(cre)Sev/\Isl1+
\Tg(CAG-lacZ,-BMPR1A*,-EGFP)1Mis/0 		involves: 129S7/SvEvBrd MGI:5444492
cn29
 		\Irx3tm3Hui/\Irx3tm3Hui
\Irx5tm3Hui/\Irx5tm3Hui
\Isl1tm1(cre)Sev/\Isl1+ 		involves: 129S/Sv MGI:5444491
cn30
 		\Fgf8tm2Moon/\Fgf8tm1Mrc
\Isl1tm1(cre)Sev/\Isl1+ 		involves: 129S/Sv MGI:3639731
cn31
 		\Smotm2Amc/\Smotm2Amc
\Isl1tm1(cre)Tmj/\Isl1+ 		involves: 129S/Sv * 129X1/SvJ MGI:5563905
cn32
 		\Smotm1Amc/\Smotm2Amc
\Isl1tm1(cre)Sev/\Isl1+ 		involves: 129S/Sv * 129X1/SvJ MGI:3689403
cn33
 		\Fgf8tm1Mrc/\Fgf8tm2Moon
\Isl1tm1(cre)Sev/\Isl1+ 		involves: 129S/Sv * Black Swiss * C57BL/6 MGI:3829040
cn34
 		\Epha4tm1.1Bzh/\Epha4tm1.1Bzh
\Isl1tm1(cre)Sev/\Isl1+
\Tg(Hlxb9-GFP)1Tmj/0 		involves: 129S/Sv * Black Swiss * C57BL/6J * CD-1 * FVB/N MGI:6406420
cn35
 		\Aldh1a2tm1Soc/\Aldh1a2tm2Soc
\Isl1tm1(cre)Tmj/\Isl1+ 		involves: 129X1/SvJ MGI:3665269
cn36
 		\Etv1tm1Wds/\Etv1tm1.1Wds
\Isl1tm1(cre)Tmj/\Isl1+ 		involves: 129X1/SvJ MGI:3720888
cn37
 		\Gt(ROSA)26Sortm1(RARA*)Soc/\Gt(ROSA)26Sortm1(RARA*)Soc
\Isl1tm1(cre)Tmj/\Isl1+ 		involves: 129X1/SvJ MGI:3795699
cn38
 		\Rspo3tm1Arte/\Rspo3tm1Arte
\Isl1tm1(cre)Tmj/\Isl1+ 		involves: 129X1/SvJ * C57BL/6 MGI:5643692
cn39
 		\Nkx2-5tm1Krc/\Nkx2-5tm1Krc
\Isl1tm1(cre)Tmj/\Isl1+ 		involves: 129X1/SvJ * C57BL/6 MGI:5643689
cn40
 		\Isl1tm1(cre)Tmj/\Isl1+
\Tg(SOD1*G37R)1Dwc/0 		involves: 129X1/SvJ * C57BL/6 MGI:3629232
cn41
 		\Isl1tm1(cre)Sev/\Isl1+
\Juntm4Wag/\Jun+ 		Not Specified MGI:7562245


Genotype
MGI:5523701
ht1
Allelic
Composition		 \Isl1Drsh/\Isl1+
Genetic
Background		 C3HeB/FeJ-Isl1Drsh
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Isl1Drsh mutation (2 available); any Isl1 mutation (37 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
growth/size/body
excessive cerumen ( J:202214 )
• excessive cerumen in the external ear canal (12 of 14)

homeostasis/metabolism
middle ear effusion ( J:202214 )
• fluid in the middle ear (11 of 14)

hearing/vestibular/ear
hearing/vestibular/ear phenotype ( J:202214 )
N
• the inner are appears grossly normal
abnormal malleus morphology ( J:202214 )
• crystalline deposits around the malleus (in 6 of 14 mice)
fusion of middle ear ossicles ( J:202214 )
• bony outgrowths that sometimes include fusion of ossicles (in 9 of 14 mice)
excessive cerumen ( J:202214 )
• excessive cerumen in the external ear canal (12 of 14)
abnormal auditory bulla morphology ( J:202214 )
• white bony bulla instead of translucent bone (in 12 of 14 mice) and abnormally vascularized bulla (5 of 14)
middle ear effusion ( J:202214 )
• fluid in the middle ear (11 of 14)
abnormal tympanic membrane morphology ( J:202214 )
• vascularized tympanic membrane (in 5 of 14 mice)
increased or absent threshold for auditory brainstem response ( J:202214 )
• from 3 weeks of age that does not progress with age
impaired hearing ( J:202214 )
• from 3 weeks of age that does not progress with age likely due to chronic otitis media
increased susceptibility to otitis media ( J:202214 )
• chronic otitis media of varying severity in the middle ear with intact tympanic membrane, white bony bulla instead of translucent bone (in 12 of 14 mice), abnormally vascularized bulla (5 of 14), vascularized tympanic membrane (5 of 14), fluid in the middle ear (11 of 14), mucosal edema (6 of 14), crystalline deposits around the malleus (6 of 14), bony outgrowths that sometimes include fusion of ossicles (9 of 14) and excessive cerumen in the external ear canal (12 of 14)

craniofacial
abnormal malleus morphology ( J:202214 )
• crystalline deposits around the malleus (in 6 of 14 mice)
fusion of middle ear ossicles ( J:202214 )
• bony outgrowths that sometimes include fusion of ossicles (in 9 of 14 mice)
excessive cerumen ( J:202214 )
• excessive cerumen in the external ear canal (12 of 14)

behavior/neurological
absent pinna reflex ( J:202214 )
• from several months of age

immune system
increased susceptibility to otitis media ( J:202214 )
• chronic otitis media of varying severity in the middle ear with intact tympanic membrane, white bony bulla instead of translucent bone (in 12 of 14 mice), abnormally vascularized bulla (5 of 14), vascularized tympanic membrane (5 of 14), fluid in the middle ear (11 of 14), mucosal edema (6 of 14), crystalline deposits around the malleus (6 of 14), bony outgrowths that sometimes include fusion of ossicles (9 of 14) and excessive cerumen in the external ear canal (12 of 14)

skeleton
abnormal malleus morphology ( J:202214 )
• crystalline deposits around the malleus (in 6 of 14 mice)
fusion of middle ear ossicles ( J:202214 )
• bony outgrowths that sometimes include fusion of ossicles (in 9 of 14 mice)




Genotype
MGI:4419013
ht2
Allelic
Composition		 \Isl1tm3Sev/\Isl1+
Genetic
Background		 involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Isl1tm3Sev mutation (0 available); any Isl1 mutation (37 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
normal phenotype
no abnormal phenotype detected ( J:156167 )
• mice are viable and fertile




Genotype
MGI:5642272
cn3
Allelic
Composition		 \Bmp4tm4Blh/\Bmp4tm4Blh
\Isl1tm1(cre)Sev/\Isl1+
Genetic
Background		 involves: 129 * 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp4tm4Blh mutation (0 available); any Bmp4 mutation (21 available)
Isl1tm1(cre)Sev mutation (1 available); any Isl1 mutation (37 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

Hindlimb fusion of Bmp4tm4Blh/Bmp4tm4Blh Isl1tm1(cre)Sev/Isl1+ mice

embryo
sirenomelia ( J:192045 )
• hindlimb fusion similar to sirenomelia
• 59% and 36% of mutants have defects consistent with type III (loss of the fibula) and type I (abnormal medial location of fibula), with the other 5% having type V sirenomelia (loss of the fibula and fusion of the femur)
abnormal embryonic cloaca development ( J:192045 )
• marker analysis indicates abnormal anterior peri-cloacal mesenchyme formation resulting in hypoplastic anterior peri-cloacal mesenchyme
abnormal hindlimb bud morphology ( J:192045 )
• the location of hindlimb bud is closely apposed to one another
• marker analysis suggests that posterior hindlimb buds are fused and that early hindlimb bud grows out normally but the midline tissue is missing
• however, the proximal-distal axis of the hindlimb bud is maintained

digestive/alimentary system

limbs/digits/tail
abnormal fibula morphology ( J:192045 )
• defective fibula formation, with fibula aberrantly located medially or absent
abnormal limb development ( J:192045 )
• defective hindlimb initiation
sirenomelia ( J:192045 )
• hindlimb fusion similar to sirenomelia
• 59% and 36% of mutants have defects consistent with type III (loss of the fibula) and type I (abnormal medial location of fibula), with the other 5% having type V sirenomelia (loss of the fibula and fusion of the femur)
abnormal hindlimb bud morphology ( J:192045 )
• the location of hindlimb bud is closely apposed to one another
• marker analysis suggests that posterior hindlimb buds are fused and that early hindlimb bud grows out normally but the midline tissue is missing
• however, the proximal-distal axis of the hindlimb bud is maintained

renal/urinary system
abnormal renal/urinary system morphology ( J:192045 )
• dysgenesis of pelvic/urogenital organs
absent urinary bladder ( J:192045 )
• bladder aplasia

reproductive system
abnormal external female genitalia morphology ( J:192045 )
• hypoplasia of external genitalia

skeleton
abnormal fibula morphology ( J:192045 )
• defective fibula formation, with fibula aberrantly located medially or absent

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
physical disorder DOID:0080015 J:192045




Genotype
MGI:4940090
cn4
Allelic
Composition		 \Hand2tm1Dsr/\Hand2tm2.1Dsr
\Isl1tm1(cre)Tmj/\Isl1+
Genetic
Background		 involves: 129 * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hand2tm1Dsr mutation (0 available); any Hand2 mutation (13 available)
Hand2tm2.1Dsr mutation (0 available); any Hand2 mutation (13 available)
Isl1tm1(cre)Tmj mutation (0 available); any Isl1 mutation (37 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging

cardiovascular system

cellular
increased apoptosis ( J:169213 )
• at E9.0, mice exhibit increased apoptosis in the pharyngeal mesoderm compared with wild-type mice




Genotype
MGI:7606915
cn5
Allelic
Composition		 \Isl1tm1(cre)Tmj/\Isl1+
\Zfp503tm1Lif/\Zfp503tm1Lif
\Tg(CAG-cat,-EGFP)1Rbns/0
Genetic
Background		 involves: 129 * 129X1/SvJ * C57BL/6 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Isl1tm1(cre)Tmj mutation (0 available); any Isl1 mutation (37 available)
Tg(CAG-cat,-EGFP)1Rbns mutation (1 available)
Zfp503tm1Lif mutation (0 available); any Zfp503 mutation (38 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
abnormal striatum morphology ( J:286635 )
• marked reduction in striatonigral GFP+ axons along routes of striatonigral axonal projections




Genotype
MGI:5643693
cn6
Allelic
Composition		 \Rspo3tm1Arte/\Rspo3tm1Arte
\Isl1tm1(cre)Sev/\Isl1+
Genetic
Background		 involves: 129 * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Isl1tm1(cre)Sev mutation (1 available); any Isl1 mutation (37 available)
Rspo3tm1Arte mutation (0 available); any Rspo3 mutation (14 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging

cardiovascular system
thin myocardium ( J:214093 )
• myocardial wall thickness is diminished at E10
abnormal cardiac outflow tract development ( J:214093 )
• poorly developed outflow tract
abnormal heart right ventricle morphology ( J:214093 )
• poorly developed right ventricle
pericardial edema ( J:214093 )
• in all mice

homeostasis/metabolism
pericardial edema ( J:214093 )
• in all mice

muscle
thin myocardium ( J:214093 )
• myocardial wall thickness is diminished at E10




Genotype
MGI:5643691
cn7
Allelic
Composition		 \Nkx2-5tm1Krc/\Nkx2-5tm1Krc
\Isl1tm1(cre)Sev/\Isl1+
Genetic
Background		 involves: 129 * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Isl1tm1(cre)Sev mutation (1 available); any Isl1 mutation (37 available)
Nkx2-5tm1Krc mutation (0 available); any Nkx2-5 mutation (22 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
embryonic lethality during organogenesis, complete penetrance ( J:214093 )
• early embryonic lethality at E10-E10.5

cardiovascular system
abnormal cardiac outflow tract development ( J:214093 )
• foreshortened outflow tract
• treatment of pregnant females from E8 to E10 with LiCl results in septation of the outflow tract in embryos, although it fails to correct the alignment defects of the outflow tract
absent heart right ventricle ( J:214093 )
• loss of right ventricle
• treatment of pregnant females from E8 to E10 with LiCl results in a larger right ventricle




Genotype
MGI:7294563
cn8
Allelic
Composition		 \Isl1tm1(cre)Sev/\Isl1+
\Pax9tm1Rbal/\Pax9tm1.1Hpt
Genetic
Background		 involves: 129 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Isl1tm1(cre)Sev mutation (1 available); any Isl1 mutation (37 available)
Pax9tm1.1Hpt mutation (0 available); any Pax9 mutation (17 available)
Pax9tm1Rbal mutation (0 available); any Pax9 mutation (17 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
abnormal common carotid artery morphology ( J:311535 )
• absent common carotid arteries in 9 of 9 mice
ventricular septal defect ( J:311535 )
• in 1 of 9 mice

craniofacial
craniofacial phenotype ( J:311535 )
N
• unlike in germline null mice, cleft palate is not seen

endocrine/exocrine glands
thymus hypoplasia ( J:311535 )
• hypoplastic and absent from the normal position
ectopic thymus ( J:311535 )
• hypoplastic and absent from the normal position

hematopoietic system
thymus hypoplasia ( J:311535 )
• hypoplastic and absent from the normal position
ectopic thymus ( J:311535 )
• hypoplastic and absent from the normal position

immune system
thymus hypoplasia ( J:311535 )
• hypoplastic and absent from the normal position
ectopic thymus ( J:311535 )
• hypoplastic and absent from the normal position

limbs/digits/tail




Genotype
MGI:7294564
cn9
Allelic
Composition		 \Isl1tm1(cre)Sev/\Isl1+
\Msx1tm1Rilm/\Msx1+
\Pax9tm1Rbal/\Pax9tm1.1Hpt
Genetic
Background		 involves: 129 * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Isl1tm1(cre)Sev mutation (1 available); any Isl1 mutation (37 available)
Msx1tm1Rilm mutation (1 available); any Msx1 mutation (18 available)
Pax9tm1.1Hpt mutation (0 available); any Pax9 mutation (17 available)
Pax9tm1Rbal mutation (0 available); any Pax9 mutation (17 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging

skeleton
abnormal hyoid bone morphology ( J:311535 )
• ossification center is shorter
• angle between the greater and lesser horns is reduced

craniofacial
craniofacial phenotype ( J:311535 )
• unlike in germline null mice, cleft palate is not seen
abnormal hyoid bone morphology ( J:311535 )
• ossification center is shorter
• angle between the greater and lesser horns is reduced

limbs/digits/tail

cardiovascular system
aberrant origin of the right subclavian artery ( J:311535 )
• cervical origin in 2 of 8 neonates

respiratory system




Genotype
MGI:3716103
cn10
Allelic
Composition		 \Isl1tm1(cre)Tmj/\Isl1+
\Mapttm1(Ewsr1/Etv4)Arbr/\Mapt+
Genetic
Background		 involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Isl1tm1(cre)Tmj mutation (0 available); any Isl1 mutation (37 available)
Mapttm1(Ewsr1/Etv4)Arbr mutation (0 available); any Mapt mutation (453 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
decreased muscle spindle number ( J:100886 )
• mice have 25% of the wild-type number of muscle spindles
abnormal sensory neuron morphology ( J:100886 )
• while sensory axons reach the skin only rudimentary sensory axon branching is established within the skin
abnormal sensory neuron innervation pattern ( J:100886 )
• sensory afferents fail to invade the spinal cord and are found in an extreme lateral position at the dorsal root entry zone
• sensory afferents are bifurcated at the entry point
• sensory afferent fibers fail to approach the midline at the distal segments and continue to occupy an extreme lateral position
abnormal dorsal root ganglion morphology ( J:100886 )
• unlike wild-type cells, dorsal root ganglia neurons survive in culture without the addition of neurotrophic agents
• whole dorsal root ganglia require neurotrophin-3 for survival

muscle
decreased muscle spindle number ( J:100886 )
• mice have 25% of the wild-type number of muscle spindles




Genotype
MGI:7562242
cn11
Allelic
Composition		 \Juntm4Wag/\Juntm4Wag
\Isl1tm1(cre)Sev/\Isl1+
Genetic
Background		 involves: 129P2/OlaHsd * 129S/Sv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Isl1tm1(cre)Sev mutation (1 available); any Isl1 mutation (37 available)
Juntm4Wag mutation (0 available); any Jun mutation (12 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
mortality/aging ( J:199412 )
N
• mice are present at the expected Mendelian ratios at E14.5-P0, indicating normal embryonic survival

cardiovascular system
abnormal pharyngeal arch artery morphology ( J:199412 )
• at E14.5 to P0, seven of 22 (32%) embryos exhibit aortic arch artery remodeling defects, including interrupted aortic arch (IAA) type B, hypoplasia of the B segment of the aortic arch, and aberrant retro-esophageal right subclavian artery
retroesophageal right subclavian artery ( J:199412 )
• at E14.5 to P0, seven of 22 (32%) embryos exhibit aberrant retro-esophageal right subclavian artery
interrupted aortic arch, type b ( J:199412 )
• at E14.5 to P0, seven of 22 (32%) embryos exhibit interrupted aortic arch (IAA) type B
abnormal cardiac outflow tract development ( J:199412 )
• at E14.5 to P0, seven of 8 (88%) embryos exhibit outflow tract (OFT) defects, including ventricular septal defect (VSD), double outlet right ventricle, and semilunar valve hyperplasia
• a non-significant trend toward a decrease in proliferating pHH3+ cells and an increase in apoptotic TUNEL+ cells is noted in the OFT at E10.5
double outlet right ventricle ( J:199412 )
• at E14.5 to P0, seven of 8 (88%) embryos exhibit DORV
ventricular septal defect ( J:199412 )
• at E14.5 to P0, seven of 8 (88%) embryos exhibit VSDs
abnormal aortic valve morphology ( J:199412 )
• at E14.5 to P0, six of 8 (75%) embryos exhibit an aortic valve defect
abnormal pulmonary valve morphology ( J:199412 )
• at E14.5 to P0, seven of 8 (88%) embryos exhibit a pulmonary valve defect
abnormal pulmonary valve cusp morphology ( J:199412 )
• at PO, pulmonary valve leaflets are enlarged and hyperplastic
semilunar valve hyperplasia ( J:199412 )
• at E14.5 to P0, seven of 8 (88%) embryos exhibit semilunar valve hyperplasia
• however, atrioventricular (mitral and tricuspid) valves are unaffected

embryo
abnormal pharyngeal arch artery morphology ( J:199412 )
• at E14.5 to P0, seven of 22 (32%) embryos exhibit aortic arch artery remodeling defects, including interrupted aortic arch (IAA) type B, hypoplasia of the B segment of the aortic arch, and aberrant retro-esophageal right subclavian artery

craniofacial
abnormal pharyngeal arch artery morphology ( J:199412 )
• at E14.5 to P0, seven of 22 (32%) embryos exhibit aortic arch artery remodeling defects, including interrupted aortic arch (IAA) type B, hypoplasia of the B segment of the aortic arch, and aberrant retro-esophageal right subclavian artery




Genotype
MGI:7562004
cn12
Allelic
Composition		 \Juntm1Pa/\Juntm4Wag
\Isl1tm1(cre)Sev/\Isl1+
Genetic
Background		 involves: 129P2/OlaHsd * 129S/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Isl1tm1(cre)Sev mutation (1 available); any Isl1 mutation (37 available)
Juntm1Pa mutation (1 available); any Jun mutation (12 available)
Juntm4Wag mutation (0 available); any Jun mutation (12 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
cardiovascular system phenotype ( J:199412 )
N
• at E10.5, embryos show normal expression of Nfatc1 (an endocardial marker) relative to controls, suggesting normal endocardial formation
• a non-significant trend toward a decrease in proliferating pHH3+ cells and an increase in apoptotic TUNEL+ cells is noted in the cardiac outflow tract (OFT) at E10.5

embryo
embryo phenotype ( J:199412 )
N
• at E10.5, embryos show normal expression of Tfap2a during cardiac OFT development relative to controls, suggesting normal cardiac neural crest cell migration




Genotype
MGI:2653523
cn13
Allelic
Composition		 \Nrg1tm1Cbm/\Nrg1tm3Cbm
\Isl1tm1(cre)Tmj/\Isl1+
Genetic
Background		 involves: 129P2/OlaHsd * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Isl1tm1(cre)Tmj mutation (0 available); any Isl1 mutation (37 available)
Nrg1tm1Cbm mutation (0 available); any Nrg1 mutation (55 available)
Nrg1tm3Cbm mutation (0 available); any Nrg1 mutation (55 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
muscle
abnormal muscle spindle morphology ( J:80793 )
• mutants exhibit a defect in muscle spindle differentiation in the dorsal root ganglion and motor neurons

nervous system
decreased Schwann cell number ( J:80793 )
• selective absence of Schwann cells at E16.5 in adductor and gracilis muscles but not in other muscles
abnormal muscle spindle morphology ( J:80793 )
• mutants exhibit a defect in muscle spindle differentiation in the dorsal root ganglion and motor neurons
abnormal proprioceptive neuron morphology ( J:80793 )
• parvalbumin+ proprioceptive afferents are present in E16.5 hindlimb muscles and initiate contact with individual myofibers, but they do not develop annulospiral branches around the myofibers
• parvalbumin+ proprioceptive terminals at muscle spindles remain primitive and unbranched at E18.5
• however, survival and initial differentiation of proprioceptive afferent sensory neurons is not impaired

cellular
decreased Schwann cell number ( J:80793 )
• selective absence of Schwann cells at E16.5 in adductor and gracilis muscles but not in other muscles




Genotype
MGI:5811826
cn14
Allelic
Composition		 \Casz1tm1.1Flc/\Casz1tm1.1Flc
\Isl1tm1(cre)Tmj/\Isl1+
Genetic
Background		 involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6 * C57BL/6J * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Casz1tm1.1Flc mutation (1 available); any Casz1 mutation (343 available)
Isl1tm1(cre)Tmj mutation (0 available); any Isl1 mutation (37 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
lethality throughout fetal growth and development, complete penetrance ( J:221324 )
• embryos are viable and indistinguishable from controls at least until E14.5; however, no mice are recovered postnatally

cardiovascular system
abnormal heart shape ( J:221324 )
• misshapen heart at E14.5
• however, no ventricular septal defects are detected at E14.5
abnormal heart right ventricle morphology ( J:221324 )
• right ventricular wall thickness is significantly reduced at E14.5
• however, left ventricular wall thickness is normal
heart right ventricle hypoplasia ( J:221324 )
• right ventricular hypoplasia at E14.5

cellular
decreased mitotic index ( J:221324 )
• at E12.5, cardiomyocyte mitotic index is significantly reduced in the right ventricles (but not in the left ventricles), as shown by phospho-histone H3 staining




Genotype
MGI:5316895
cn15
Allelic
Composition		 \Maftm1.1Cbm/\Maftm2.1Cbm
\Isl1tm1(cre)Tmj/\Isl1+
Genetic
Background		 involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Isl1tm1(cre)Tmj mutation (0 available); any Isl1 mutation (37 available)
Maftm1.1Cbm mutation (0 available); any Maf mutation (27 available)
Maftm2.1Cbm mutation (0 available); any Maf mutation (27 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
abnormal axon morphology ( J:181639 )
• large diameter axons in the saphenous nerve become thinner
• many myelinated axons greater than 4 um are lost in the interosseous nerve
abnormal Meissner's corpuscle morphology ( J:181639 )
• reduced in number and rudimentary
• however, NF200+ axons innervating the dermal papillae are normal
abnormal pacinian corpuscle morphology ( J:181639 )
• reduced in number with axonal loss
• remaining corpuscles are small and have irregularly shaped cores
axon degeneration ( J:181639 )
• innervating Pacinian corpuscles
abnormal nervous system electrophysiology ( J:181639 )
• following skin indentation, mice exhibit prolonged rapid adapting mechanoreceptor (RAM) firing that continues into the beginning of the static phase with increased RAM spiking over a wide range of displacement amplitudes and shortened spike intervals compared with control mice
• following skin indentation, mice exhibit decreased von Frey thresholds of short adapting mechanoreceptors compared with control mice
• mice treated with linopirdine fail to exhibit a decrease in interspike interval in the saphenous nerve unlike control mice
• however, mice exhibit normal short adapting mechanoreceptor, D-hair receptors and Adelta nociceptor firing following skin indentation
decreased nerve conduction velocity ( J:181639 )
• in large diameter but not medium diameter fibers

integument
abnormal coat/ hair morphology ( J:181639 )
• the hair in the dorsal hindpaw is shorter than the hair in the back skin and resembles hair of the tail

growth/size/body
decreased body weight ( J:181639 )
• mild in adults
• however, mice exhibit normal body weight at P15

behavior/neurological
impaired coordination ( J:181639 )
• on a rotarod test




Genotype
MGI:7343919
cn16
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 (18 available)
Isl1tm1(cre)Sev mutation (1 available); any Isl1 mutation (37 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
cn17
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 (18 available)
Isl1tm1(cre)Sev mutation (1 available); any Isl1 mutation (37 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:7545577
cn18
Allelic
Composition		 \Dll4tm1Frad/\Dll4+
\Isl1tm1(cre)Tmj/\Isl1+
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dll4tm1Frad mutation (0 available); any Dll4 mutation (24 available)
Isl1tm1(cre)Tmj mutation (0 available); any Isl1 mutation (37 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
abnormal cardiac outflow tract development ( J:308916 )
• 9 of 28 embryos show outflow tract alignment defects
• however, septation of the outflow tract is preserved
double outlet right ventricle ( J:308916 )
• in embryos with a severe ventricular septal defect
overriding aortic valve ( J:308916 )
• in embryos with a shallower ventricular septal defect
ventricular septal defect ( J:308916 )
• some embryos show a prominent ventricular septal defect while in others this is more shallow
abnormal pulmonary valve morphology ( J:308916 )
• pulmonary valve arises more cranially and exits the right ventricle




Genotype
MGI:3717101
cn19
Allelic
Composition		 \Isl1tm1(cre)Tmj/\Isl1+
\Shc1tm9Paw/\Shc1tm9.1Paw
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Isl1tm1(cre)Tmj mutation (0 available); any Isl1 mutation (37 available)
Shc1tm9.1Paw mutation (0 available); any Shc1 mutation (65 available)
Shc1tm9Paw mutation (0 available); any Shc1 mutation (65 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
normal phenotype
no abnormal phenotype detected ( J:122927 )
• mutants appear normal




Genotype
MGI:3717100
cn20
Allelic
Composition		 \Isl1tm1(cre)Tmj/\Isl1+
\Shc1tm9Paw/\Shc1tm9Paw
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Isl1tm1(cre)Tmj mutation (0 available); any Isl1 mutation (37 available)
Shc1tm9Paw mutation (0 available); any Shc1 mutation (65 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
normal phenotype
no abnormal phenotype detected ( J:122927 )
• mutants appear normal




Genotype
MGI:5524148
cn21
Allelic
Composition		 \Brsk2tm2.1Jrs/\Brsk2tm2.1Jrs
\Isl1tm1(cre)Tmj/\Isl1+
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Brsk2tm2.1Jrs mutation (1 available); any Brsk2 mutation (37 available)
Isl1tm1(cre)Tmj mutation (0 available); any Isl1 mutation (37 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
neonatal lethality, incomplete penetrance ( J:201695 )
• few mice survive beyond 24 hours after birth

nervous system
nervous system phenotype ( J:201695 )
N
• interneurons exhibit normal migration to proper positions Golgi tendon organs are normally innervated
abnormal axon extension ( J:201695 )
• reduced outgrowths from type Ia proprioceptive sensory neuron in dorsal root ganglia explants in the presence of NT-3 or NGF
abnormal sensory neuron innervation pattern ( J:201695 )
• type Ia proprioceptive sensory neuron projections are disrupted and exhibit arrest at E15.5 as they reach the brainstem or ventral spinal cord in the medial spinal cord adjacent to the central canal and entire rostral-caudal extent of the spinal cord that persists through fetal development until P8 compared to in control mice
• type Ia proprioceptive sensory neuron projections fail to form terminal arbors
• mice exhibit defects in a second population of sensory neurons with few axons of the T12 dorsal root ganglion that cross the midline and only rare occurrences of axons that reach the proper contralateral target compared with control mice
• whisker axons have sparse arbors that fail to reach the correct target region in the bed nucleus of the stria terminalis (BSTC) without extensive branching
• however, mice exhibit normal growth of the sensory axons in the spinal cord and neuron targeting of nociceptive sensory axons in laminae I/IIi/IIo
• however, mice exhibit normal Pv+ proprioceptive axons growth into fore and hind limb muscles, trunk sensory axons form normal disc shaped endings on Merkel cells in the epidermis and axons in the deep vibrissal nerve that innervate whisker follicles
abnormal proprioceptive neuron morphology ( J:201695 )
• type Ia proprioceptive sensory neuron projections are disrupted and exhibit arrest at E15.5 as they reach the brainstem or ventral spinal cord in the medial spinal cord adjacent to the central canal and entire rostral-caudal extent of the spinal cord that persists through fetal development until P8 compared to in control mice
• type Ia proprioceptive sensory neuron projections fail to form terminal arbors
• fewer proprioceptor axons in the cuneate nucleus, but not the cuneate fascicle
• however, growth of the sensory axons in the spinal cord is normal

behavior/neurological
absent gastric milk in neonates ( J:201695 )
• little milk in stomachs
bradykinesia ( J:201695 )
• hypokinetic

cellular
abnormal axon extension ( J:201695 )
• reduced outgrowths from type Ia proprioceptive sensory neuron in dorsal root ganglia explants in the presence of NT-3 or NGF




Genotype
MGI:4438214
cn22
Allelic
Composition		 \Isl1tm1(cre)Tmj/\Isl1+
\Phox2btm3.1Jbr/\Phox2btm3.1Jbr
Genetic
Background		 involves: 129S2/SvPas * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Isl1tm1(cre)Tmj mutation (0 available); any Isl1 mutation (37 available)
Phox2btm3.1Jbr mutation (2 available); any Phox2b mutation (23 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
abnormal pterygopalatine ganglion morphology ( J:157532 )
• fails to form, on six sides out of eight, in four embryos
absent petrosal ganglion ( J:157532 )
• missing, on five sides out of six, in three embryos




Genotype
MGI:4418306
cn23
Allelic
Composition		 \Phox2btm3.1Jbr/\Phox2btm3.1Jbr
\Isl1tm1(cre)Tmj/\Isl1+
Genetic
Background		 involves: 129S2/SvPas * 129X1/SvJ * C57BL/6 * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Isl1tm1(cre)Tmj mutation (0 available); any Isl1 mutation (37 available)
Phox2btm3.1Jbr mutation (2 available); any Phox2b mutation (23 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
postnatal lethality, complete penetrance ( J:155885 )
• 1 week after birth, few mice are still alive

nervous system
abnormal neuron differentiation ( J:155885 )
• mice exhibit abnormal development of facial neuron precursors that do not migrate into r6 unlike in wild-type mice
• mice exhibit impaired development of retrotapezoid nucleus neurons compared with wild-type mice
abnormal neuron physiology ( J:155885 )
• the parafacial area e-pF oscillator exhibits only occasional motor activity bursts with reduced frequency compared to in wild-type mice
• rhythmic phrenic discharges are less frequent than in wild-type mice
• mice fail to exhibit an accelerated respiratory-like rhythm phrenic discharge in response to low pH challenge unlike similarly treated wild-type mice

growth/size/body
decreased body size ( J:155885 )
• surviving mice are smaller than wild-type mice

cellular
abnormal neuron differentiation ( J:155885 )
• mice exhibit abnormal development of facial neuron precursors that do not migrate into r6 unlike in wild-type mice
• mice exhibit impaired development of retrotapezoid nucleus neurons compared with wild-type mice




Genotype
MGI:3625139
cn24
Allelic
Composition		 \Bmpr1atm2.1Bhr/\Bmpr1atm2.2Bhr
\Isl1tm1(cre)Sev/\Isl1+
Genetic
Background		 involves: 129S4/SvJae * 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1atm2.1Bhr mutation (1 available); any Bmpr1a mutation (90 available)
Bmpr1atm2.2Bhr mutation (0 available); any Bmpr1a mutation (90 available)
Isl1tm1(cre)Sev mutation (1 available); any Isl1 mutation (37 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
embryo
abnormal hindlimb bud morphology ( J:107396 )
• by E11.5 ectopic outgrowths were observed on the ventral surface of the hindlimb bud
small hindlimb buds ( J:107396 )
• at E10, hindlimb buds were smaller

mortality/aging
embryonic lethality during organogenesis, complete penetrance ( J:107396 )
• mutants were recovered at Mendelian frequencies at E10.5 but began to be lost by E11.5 and no live mutants were recovered at E14.5

cardiovascular system
persistent truncus arteriosus ( J:107396 )
• abnormalities of outflow tract and right ventricle was evident by E8.5
• at E13.5 severe abnormalities of outflow tract formation with evident of persistent truncus arteriosus and underdeveloped valves
abnormal fetal cardiomyocyte apoptosis ( J:107396 )
• decreased apoptosis in outflow tract cushions and increased apoptosis atop the ventricular septum
decreased fetal cardiomyocyte proliferation ( J:107396 )
• proliferation of ventricular myocardium in the free wall and septum was decreased in mutants relative to controls

muscle
abnormal fetal cardiomyocyte apoptosis ( J:107396 )
• decreased apoptosis in outflow tract cushions and increased apoptosis atop the ventricular septum
decreased fetal cardiomyocyte proliferation ( J:107396 )
• proliferation of ventricular myocardium in the free wall and septum was decreased in mutants relative to controls

limbs/digits/tail
abnormal hindlimb bud morphology ( J:107396 )
• by E11.5 ectopic outgrowths were observed on the ventral surface of the hindlimb bud
small hindlimb buds ( J:107396 )
• at E10, hindlimb buds were smaller
abnormal hindlimb morphology ( J:107396 )
• by E13.5 hindlimb formation was severely abnormal

cellular
abnormal fetal cardiomyocyte apoptosis ( J:107396 )
• decreased apoptosis in outflow tract cushions and increased apoptosis atop the ventricular septum
decreased cell proliferation ( J:107396 )
• proliferation of developing hindlimb buds was severely decreased
decreased fetal cardiomyocyte proliferation ( J:107396 )
• proliferation of ventricular myocardium in the free wall and septum was decreased in mutants relative to controls




Genotype
MGI:3831923
cn25
Allelic
Composition		 \Dvl3tm1Awb/\Dvl3tm1Awb
\Gt(ROSA)26Sortm1Sor/\Gt(ROSA)26Sor+
\Isl1tm1(cre)Sev/\Isl1+
Genetic
Background		 involves: 129S4/SvJaeSor * 129S6/SvEvTac * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dvl3tm1Awb mutation (1 available); any Dvl3 mutation (37 available)
Gt(ROSA)26Sortm1Sor mutation (10 available); any Gt(ROSA)26Sor mutation (1097 available)
Isl1tm1(cre)Sev mutation (1 available); any Isl1 mutation (37 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
cardiovascular system phenotype ( J:142392 )
N
• at E10.5, E14.5 and E18.5, secondary heart field development is normal




Genotype
MGI:4940091
cn26
Allelic
Composition		 \Hand2tm1Dsr/\Hand2tm2.1Dsr
\Gt(ROSA)26Sortm1Sor/\Gt(ROSA)26Sor+
\Isl1tm1(cre)Tmj/\Isl1+
Genetic
Background		 involves: 129S4/SvJaeSor * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1Sor mutation (10 available); any Gt(ROSA)26Sor mutation (1097 available)
Hand2tm1Dsr mutation (0 available); any Hand2 mutation (13 available)
Hand2tm2.1Dsr mutation (0 available); any Hand2 mutation (13 available)
Isl1tm1(cre)Tmj mutation (0 available); any Isl1 mutation (37 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
abnormal heart development ( J:169213 )
• at E9.5, mice exhibit fewer progenitor cells migration into the outflow tract compared with control mice




Genotype
MGI:5524150
cn27
Allelic
Composition		 \Stk11tm1.1Rdp/\Stk11tm1.1Rdp
\Isl1tm1(cre)Tmj/\Isl1+
Genetic
Background		 involves: 129S6/SvEvTac * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Isl1tm1(cre)Tmj mutation (0 available); any Isl1 mutation (37 available)
Stk11tm1.1Rdp mutation (0 available); any Stk11 mutation (34 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
decreased tumor-free survival time ( J:201695 )
• mice are euthanized at 4 to 6 weeks due to massive gastrointestinal tumors
• however, mice survive to birth and postnatally

neoplasm
increased gastrointestinal tumor incidence ( J:201695 )
• massive gastrointestinal tumors

digestive/alimentary system
increased gastrointestinal tumor incidence ( J:201695 )
• massive gastrointestinal tumors

nervous system
nervous system phenotype ( J:201695 )
N
• axon bundles are normal in the brainstem trigeminal complex, ascending tracts in the spinal cord (spinocerebellar, spinothalamic and dorsal funiculus), the optic nerve and motor and sensory nerves in the periphery
• mice exhibit normal type Ia proprioceptive sensory neuron projections to the ventral horn
• mice exhibit no sensory or motor deficit
abnormal cerebral cortex morphology ( J:201695 )
• axons tracts in the cortical intermediate zone are reduced compared to in control mice
thin cerebral cortex ( J:201695 )
• thin-walled

behavior/neurological
behavior/neurological phenotype ( J:201695 )
N
• mice exhibit no sensory or motor deficit




Genotype
MGI:5444492
cn28
Allelic
Composition		 \Isl1tm1(cre)Sev/\Isl1+
\Tg(CAG-lacZ,-BMPR1A*,-EGFP)1Mis/0
Genetic
Background		 involves: 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Isl1tm1(cre)Sev mutation (1 available); any Isl1 mutation (37 available)
Tg(CAG-lacZ,-BMPR1A*,-EGFP)1Mis mutation (1 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
atrioventricular septal defect ( J:189007 )
• membranous defect




Genotype
MGI:5444491
cn29
Allelic
Composition		 \Irx3tm3Hui/\Irx3tm3Hui
\Irx5tm3Hui/\Irx5tm3Hui
\Isl1tm1(cre)Sev/\Isl1+
Genetic
Background		 involves: 129S/Sv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Irx3tm3Hui mutation (0 available); any Irx3 mutation (26 available)
Irx5tm3Hui mutation (0 available); any Irx5 mutation (31 available)
Isl1tm1(cre)Sev mutation (1 available); any Isl1 mutation (37 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
abnormal cardiac outflow tract development ( J:189007 )
• phenocopies abnormalities seen in germ line double null mice
abnormal interatrial septum morphology ( J:189007 )
• absence of the dorsal mesenchymal protrusion and the septum primum
atrial septal defect ( J:189007 )
• appears to be due to a defect in the fusion between the atrioventricular endocardial cushions and the dorsal mesenchymal protrusion
atrioventricular septal defect ( J:189007 )
• atrioventricular canal defect




Genotype
MGI:3639731
cn30
Allelic
Composition		 \Fgf8tm2Moon/\Fgf8tm1Mrc
\Isl1tm1(cre)Sev/\Isl1+
Genetic
Background		 involves: 129S/Sv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8tm1Mrc mutation (0 available); any Fgf8 mutation (21 available)
Fgf8tm2Moon mutation (0 available); any Fgf8 mutation (21 available)
Isl1tm1(cre)Sev mutation (1 available); any Isl1 mutation (37 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
embryonic lethality during organogenesis, incomplete penetrance ( J:109475 )
• severely affected mutants (35%) die by E10; most (65%) survive to birth

embryo
small pharyngeal arch ( J:109475 )
• at E8.75 -10.5, surviving mutants have small pharyngeal arches

cellular
increased apoptosis ( J:109475 )
• excess apoptotic cells are detected at the 7-9 somite stage in ventral endoderm and adjacent smooth muscle

cardiovascular system
abnormal truncus arteriosus septation ( J:109475 )
• conotruncal cushions are hypocellular compared to controls; fusion of cushions to form AP septum is delayed in mutants
persistent truncus arteriosus ( J:109475 )
• 100% of E18.5/newborns have PTA
abnormal heart right ventricle morphology ( J:109475 )
• at E8.75 -10.5, surviving mutants have severe right ventricle hypoplasia

craniofacial
small pharyngeal arch ( J:109475 )
• at E8.75 -10.5, surviving mutants have small pharyngeal arches




Genotype
MGI:5563905
cn31
Allelic
Composition		 \Smotm2Amc/\Smotm2Amc
\Isl1tm1(cre)Tmj/\Isl1+
Genetic
Background		 involves: 129S/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Isl1tm1(cre)Tmj mutation (0 available); any Isl1 mutation (37 available)
Smotm2Amc mutation (2 available); any Smo mutation (40 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
blood vessel atresia ( J:204743 )
• embryos show severe inflow tract defects with pulmonary vein atresia
abnormal heart right ventricle morphology ( J:204743 )
• embryos show severe inflow tract defects with pulmonary vein atresia
abnormal blood circulation ( J:204743 )
• embryos show persistence of aortopulmonary collateral circulation




Genotype
MGI:3689403
cn32
Allelic
Composition		 \Smotm1Amc/\Smotm2Amc
\Isl1tm1(cre)Sev/\Isl1+
Genetic
Background		 involves: 129S/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Isl1tm1(cre)Sev mutation (1 available); any Isl1 mutation (37 available)
Smotm1Amc mutation (1 available); any Smo mutation (40 available)
Smotm2Amc mutation (2 available); any Smo mutation (40 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging

cardiovascular system
abnormal sixth pharyngeal arch artery morphology ( J:110602 )
• E10 embryos show an absence of the left 6th aortic arch although the right 6th arch is normal
abnormal cardiac outflow tract development ( J:110602 )
• outflow tracts are shortened by about 17%, 18% and 22% at E10.5, E11.5, and E12.5, respectively
• exhibit increased apoptosis in outflow tract myocardium at E10
persistent truncus arteriosus ( J:110602 )
• seen in 19 of 20 mutants at E18.5
transposition of great arteries ( J:110602 )
• seen in 1 of 20 mutants at E18.5
atrial septal defect ( J:110602 )
• E12.5 and E18.5 hearts show atrial septal defects
ventricular septal defect ( J:110602 )
• ventricular septal defects

embryo
abnormal sixth pharyngeal arch artery morphology ( J:110602 )
• E10 embryos show an absence of the left 6th aortic arch although the right 6th arch is normal
abnormal cardiac neural crest cell migration ( J:110602 )
• marker analysis indicates that cardiac neural crest cells are present in the pharyngeal arches and the outflow tract but do not penetrate the outflow tract to the same extent as in wild-type

craniofacial
abnormal sixth pharyngeal arch artery morphology ( J:110602 )
• E10 embryos show an absence of the left 6th aortic arch although the right 6th arch is normal

cellular
abnormal cardiac neural crest cell migration ( J:110602 )
• marker analysis indicates that cardiac neural crest cells are present in the pharyngeal arches and the outflow tract but do not penetrate the outflow tract to the same extent as in wild-type




Genotype
MGI:3829040
cn33
Allelic
Composition		 \Fgf8tm1Mrc/\Fgf8tm2Moon
\Isl1tm1(cre)Sev/\Isl1+
Genetic
Background		 involves: 129S/Sv * Black Swiss * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8tm1Mrc mutation (0 available); any Fgf8 mutation (21 available)
Fgf8tm2Moon mutation (0 available); any Fgf8 mutation (21 available)
Isl1tm1(cre)Sev mutation (1 available); any Isl1 mutation (37 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
abnormal cardiac epithelial to mesenchymal transition ( J:143444 )
• in explants no cells manage to successfully undergo endothelial to mesenchymal transformation
abnormal cardiac outflow tract development ( J:143444 )
• outflow tracts are short and abnormally angulated
abnormal conotruncal ridge morphology ( J:143444 )
• outflow tract cushions contain less cardiac jelly and fewer mesenchymal cells
• proximal outflow tract cushions are thinner and contain fewer cells while distal cushions are thinner but do not display a change in cell density
persistent truncus arteriosus ( J:143444 )
• all show type III PTA (the outflow tract is unseptated along its entire proximodstal extent)




Genotype
MGI:6406420
cn34
Allelic
Composition		 \Epha4tm1.1Bzh/\Epha4tm1.1Bzh
\Isl1tm1(cre)Sev/\Isl1+
\Tg(Hlxb9-GFP)1Tmj/0
Genetic
Background		 involves: 129S/Sv * Black Swiss * C57BL/6J * CD-1 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Epha4tm1.1Bzh mutation (1 available); any Epha4 mutation (67 available)
Isl1tm1(cre)Sev mutation (1 available); any Isl1 mutation (37 available)
Tg(Hlxb9-GFP)1Tmj mutation (3 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
abnormal innervation ( J:243785 )
• embryos show an increase in the number of abducens nerve bundles following exit from the hindbrain, reductions in both abducens nerve length and diameter at the orbit and larger wandering abducens nerve bundles that exhibit enhanced nerve pausing at the midpoint decision within the abducens fasciculation region
• however, trochlear nerve and first cervical spine projections are normal
abnormal abducens nerve morphology ( J:243785 )
• abducens nerve length is reduced and nerve diameter is thinner near the orbit in embryos




Genotype
MGI:3665269
cn35
Allelic
Composition		 \Aldh1a2tm1Soc/\Aldh1a2tm2Soc
\Isl1tm1(cre)Tmj/\Isl1+
Genetic
Background		 involves: 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aldh1a2tm1Soc mutation (0 available); any Aldh1a2 mutation (35 available)
Aldh1a2tm2Soc mutation (0 available); any Aldh1a2 mutation (35 available)
Isl1tm1(cre)Tmj mutation (0 available); any Isl1 mutation (37 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
abnormal motor neuron innervation pattern ( J:112635 )
• at E13.5 both ventral and dorsal projecting lateral motor column neurons appear stunted or atrophied and in some cases are retracted
decreased motor neuron number ( J:112635 )
• at E13.5 at the forelimb level the number of lateral motor column medial and lateral motor neurons are reduced by about 30% and 25%, respectively; however no difference in the number of lateral motor column lateral motor neurons is detected at E12.5
• at E13.5 at the hindlimb level the number of lateral motor column medial and lateral motor neurons are reduced by about 17% and 20%, respectively




Genotype
MGI:3720888
cn36
Allelic
Composition		 \Etv1tm1Wds/\Etv1tm1.1Wds
\Isl1tm1(cre)Tmj/\Isl1+
Genetic
Background		 involves: 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Etv1tm1.1Wds mutation (0 available); any Etv1 mutation (44 available)
Etv1tm1Wds mutation (2 available); any Etv1 mutation (44 available)
Isl1tm1(cre)Tmj mutation (0 available); any Isl1 mutation (37 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
abnormal proprioceptive neuron morphology ( J:83461 )
• proprioceptive afferents terminate prematurely in the intrmediate zone of the spinal cord




Genotype
MGI:3795699
cn37
Allelic
Composition		 \Gt(ROSA)26Sortm1(RARA*)Soc/\Gt(ROSA)26Sortm1(RARA*)Soc
\Isl1tm1(cre)Tmj/\Isl1+
Genetic
Background		 involves: 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1(RARA*)Soc mutation (1 available); any Gt(ROSA)26Sor mutation (1097 available)
Isl1tm1(cre)Tmj mutation (0 available); any Isl1 mutation (37 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
decreased motor neuron number ( J:135403 )
• mice exhibit a 35% decrease in Lim1+/Islet2+ motor neurons compared to wild-type mice




Genotype
MGI:5643692
cn38
Allelic
Composition		 \Rspo3tm1Arte/\Rspo3tm1Arte
\Isl1tm1(cre)Tmj/\Isl1+
Genetic
Background		 involves: 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Isl1tm1(cre)Tmj mutation (0 available); any Isl1 mutation (37 available)
Rspo3tm1Arte mutation (0 available); any Rspo3 mutation (14 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
lethality throughout fetal growth and development, complete penetrance ( J:214093 )
• late gestational lethality at E14.5-E16.5 in most mice due to cardiovascular failure

cardiovascular system
double outlet right ventricle ( J:214093 )
• all mice exhibit small right ventricle and/or double outlet right ventricle
decreased heart right ventricle size ( J:214093 )
• all mice exhibit small right ventricle and/or double outlet right ventricle

homeostasis/metabolism




Genotype
MGI:5643689
cn39
Allelic
Composition		 \Nkx2-5tm1Krc/\Nkx2-5tm1Krc
\Isl1tm1(cre)Tmj/\Isl1+
Genetic
Background		 involves: 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Isl1tm1(cre)Tmj mutation (0 available); any Isl1 mutation (37 available)
Nkx2-5tm1Krc mutation (0 available); any Nkx2-5 mutation (22 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
perinatal lethality ( J:214093 )
• cyanosis and death within a few hours of birth; perinatal lethality is due to outflow tract septation defects

cardiovascular system
abnormal myocardial trabeculae morphology ( J:214093 )
• the trabecular myocardium, but not the compact myocardium, shows a reduction in the relative proliferation rate in embryos
abnormal cardiac outflow tract development ( J:214093 )
• foreshortened outflow tract
• complete penetrance of outflow tract defects
• the proximal outflow tract shows defective endocardial networks, while the neural crest-derived distal outflow tract endocardial cushions appear normal
abnormal conotruncal ridge morphology ( J:214093 )
• smaller developing endocardial cushions in the proximal outflow tract
• the outflow tract cushions show a reduction in the relative proliferation rate in embryos
persistent truncus arteriosus ( J:214093 )
• 92% of mutants exhibit a single outflow tract arising from the right ventricle
double outlet right ventricle ( J:214093 )
• only a small number of embryos show double outlet right ventricle
abnormal heart right ventricle morphology ( J:214093 )
• reduction of trabecular networks in the right ventricle, whereas the left ventricle is normal
heart right ventricle hypoplasia ( J:214093 )
• decrease in the relative proliferative rate of the second heart field is evident as early as E10, resulting in hypoplastic right ventricle at E12.5

homeostasis/metabolism

muscle
abnormal myocardial trabeculae morphology ( J:214093 )
• the trabecular myocardium, but not the compact myocardium, shows a reduction in the relative proliferation rate in embryos




Genotype
MGI:3629232
cn40
Allelic
Composition		 \Isl1tm1(cre)Tmj/\Isl1+
\Tg(SOD1*G37R)1Dwc/0
Genetic
Background		 involves: 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Isl1tm1(cre)Tmj mutation (0 available); any Isl1 mutation (37 available)
Tg(SOD1*G37R)1Dwc mutation (1 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:109131 )
• overall survival is extended 64 days

nervous system
axon degeneration ( J:109131 )
• in transgenic mice expressing a motorneuron specific Cre, disease onset is delayed 18 days
• progression from onset through early disease is delayed 31 days
• later disease progression is slowed with an average extension of 15 days

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
amyotrophic lateral sclerosis type 1 DOID:0060193 OMIM:105400
 J:109131




Genotype
MGI:7562245
cn41
Allelic
Composition		 \Isl1tm1(cre)Sev/\Isl1+
\Juntm4Wag/\Jun+
Genetic
Background		 Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Isl1tm1(cre)Sev mutation (1 available); any Isl1 mutation (37 available)
Juntm4Wag mutation (0 available); any Jun mutation (12 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
interrupted aortic arch, type b ( J:199412 )
• at E14.5 to P0, a single embryo (1 of 22) shows IAA type B
• however, no other OFT or aortic arch abnormalities are observed




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Send questions and comments to User Support. 		last database update
03/25/2025
MGI 6.24 		The Jackson Laboratory