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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Shhtm1(EGFP/cre)Cjt
targeted mutation 1, Clifford J Tabin
MGI:3053959
Summary 34 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Shhtm1(EGFP/cre)Cjt/Shhtm1(EGFP/cre)Cjt Not Specified MGI:3054015
cn2
Shhtm1(EGFP/cre)Cjt/Shhtm2Amc involves: 129/Sv * C57BL/6J * SWR MGI:3513051
cn3
Shhtm1(EGFP/cre)Cjt/Shh+
Sox9tm2Crm/Sox9tm2Crm
B6.Cg-Shhtm1(EGFP/cre)Cjt Sox9tm2Crm MGI:6378814
cn4
Dicer1tm1Bdh/Dicer1tm1Bdh
Shhtm1(EGFP/cre)Cjt/Shh+
involves: 129 MGI:4943703
cn5
Robo1tm1Matl/Robo1tm1Matl
Robo2tm1Rilm/Robo2tm1Rilm
Shhtm1(EGFP/cre)Cjt/Shh+
involves: 129 MGI:5522668
cn6
Dicer1tm1Bdh/Dicer1+
Yy1tm2.1Yshi/Yy1+
Shhtm1(EGFP/cre)Cjt/Shh+
involves: 129 * 129S4/SvJae * C57BL/6 MGI:5902326
cn7
Dicer1tm1Mmk/Dicer1tm1Mmk
Fgf9tm1.1Fwan/Fgf9tm1.1Fwan
Shhtm1(EGFP/cre)Cjt/Shh+
involves: 129 * 129S4/SvJaeSor * C57BL/6J MGI:5751753
cn8
Dicer1tm1Mmk/Dicer1tm1Mmk
Fgf9tm1.1Fwan/Fgf9+
Shhtm1(EGFP/cre)Cjt/Shh+
involves: 129 * 129S4/SvJaeSor * C57BL/6J MGI:5751752
cn9
Dicer1tm1Mmk/Dicer1tm1Mmk
Shhtm1(EGFP/cre)Cjt/Shh+
involves: 129 * C57BL/6J MGI:5751748
cn10
Sox9tm1Gsr/Sox9tm1Gsr
Shhtm1(EGFP/cre)Cjt/Shh+
involves: 129P2/OlaHsd MGI:5557988
cn11
Ift88tm1Bky/Ift88tm1Bky
Shhtm1(EGFP/cre)Cjt/Shh+
involves: 129P2/OlaHsd MGI:6378813
cn12
Gt(ROSA)26Sortm1(Grem1)Svok/Gt(ROSA)26Sor+
Shhtm1(EGFP/cre)Cjt/0
involves: 129S1/Sv MGI:5588383
cn13
Sp8tm1Smb/Sp8tm1Smb
Shhtm1(EGFP/cre)Cjt/Shh+
involves: 129S1/Sv * 129X1/SvJ MGI:7437679
cn14
Ctnnb1tm2Kem/Ctnnb1tm2Kem
Shhtm1(EGFP/cre)Cjt/Shh+
involves: 129S1/Sv * 129X1/SvJ MGI:4361162
cn15
Fgfr1tm1Jpa/Fgfr1tm1Jpa
Fgfr2tm1Dor/Fgfr2tm1Dor
Shhtm1(EGFP/cre)Cjt/Shh+
involves: 129S1/Sv * 129X1/SvJ MGI:5694226
cn16
Ctnnb1tm2Kem/Ctnnb1tm2Kem
Gt(ROSA)26Sortm1(Fgf8)Lma/Gt(ROSA)26Sor+
Shhtm1(EGFP/cre)Cjt/Shh+
involves: 129S1/Sv * 129X1/SvJ MGI:5694211
cn17
Gt(ROSA)26Sortm1(tetO-Sox9)Msan/Gt(ROSA)26Sortm1(rtTA,EGFP)Nagy
Shhtm1(EGFP/cre)Cjt/Shh+
involves: 129S1/Sv * 129X1/SvJ MGI:5557985
cn18
Foxp4tm2.1Eem/Foxp4tm2.1Eem
Shhtm1(EGFP/cre)Cjt/Shh+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:5433105
cn19
Foxp1tm1.1Pwt/Foxp1tm1.1Pwt
Foxp4tm2.1Eem/Foxp4tm2.1Eem
Shhtm1(EGFP/cre)Cjt/Shh+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:5433106
cn20
Chd7tm1.1Dmm/Chd7tm1.1Dmm
Gt(ROSA)26Sortm6(CAG-ZsGreen1)Hze/Gt(ROSA)26Sor+
Shhtm1(EGFP/cre)Cjt/Shh+
involves: 129S1/SvlmJ * 129S6/SvEvTac * C57BL/6J * SJL/J MGI:7518701
cn21
E2f4tm2.1Lees/E2f4tm2.1Lees
Shhtm1(EGFP/cre)Cjt/Shh+
involves: 129S4/SvJae * 129S4/SvJaeSor * C57BL/6 MGI:5904347
cn22
Yy1tm2.1Yshi/Yy1tm2.1Yshi
Shhtm1(EGFP/cre)Cjt/Shh+
involves: 129S4/SvJae * C57BL/6J MGI:5902322
cn23
Fgfr1tm3.1Cxd/Fgfr1tm3.2Cxd
Shhtm1(EGFP/cre)Cjt/Shh+
involves: 129S6/SvEvTac MGI:3607119
cn24
Fgfr1tm3.2Cxd/Fgfr1tm3.2Cxd
Shhtm1(EGFP/cre)Cjt/Shh+
involves: 129S6/SvEvTac MGI:3606229
cn25
Wnt1tm1.1Mze/Wnt1tm1.1Mze
Gt(ROSA)26Sortm14(CAG-tdTomato)Hze/Gt(ROSA)26Sor+
Shhtm1(EGFP/cre)Cjt/Shh+
involves: 129S6/SvEvTac * C57BL/6N MGI:5495282
cn26
Bmpr1atm2.1Bhr/Bmpr1atm2.1Bhr
Shhtm1(EGFP/cre)Cjt/?
involves: 129S7/SvEvBrd MGI:5305710
cn27
Disp1tm2.1Amc/Disp1tm2Amc
Shhtm1(EGFP/cre)Cjt/Shh+
involves: 129/Sv * C57BL/6J * SWR MGI:3513044
cn28
Disp1icb/Disp1tm2Amc
Shhtm1(EGFP/cre)Cjt/Shh+
involves: 129/Sv * C57BL/6J * SWR MGI:3513048
cn29
Ctnnb1tm1Mmt/Ctnnb1tm1Mmt
Shhtm1(EGFP/cre)Cjt/Shh+
involves: 129X1/SvJ MGI:5544581
cn30
Disp1icb/Disp1tm1Amc
Shhtm1(EGFP/cre)Cjt/Shh+
involves: 129X1/SvJ * C57BL/6J MGI:3054017
cn31
Gt(ROSA)26Sortm4(CAG-lacZ,-EGFP)Dym/Gt(ROSA)26Sor+
Shhtm1(EGFP/cre)Cjt/Shh+
involves: C57BL/6 MGI:3777639
cn32
Gt(ROSA)26Sortm1(CAG-Bmpr1a)Que/Gt(ROSA)26Sor+
Shhtm1(EGFP/cre)Cjt/?
Not Specified MGI:5305711
cn33
Gt(ROSA)26Sortm2(Sp8)Lma/Gt(ROSA)26Sor+
Shhtm1(EGFP/cre)Cjt/Shh+
Not Specified MGI:5694220
cx34
Shhtm1(EGFP/cre)Cjt/Shh+
Sox17tm1Ysk/Sox17+
involves: 129S1/Sv * C57BL/6 MGI:6113949


Genotype
MGI:3054015
hm1
Allelic
Composition
Shhtm1(EGFP/cre)Cjt/Shhtm1(EGFP/cre)Cjt
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Shhtm1(EGFP/cre)Cjt mutation (1 available); any Shh mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• pulmonary arteries connect to aorta instead of the ouflow tract
• embryos have a disorganized vascular endothelial plexus along anterior foregut which does not connect to heart inflow and outflow tracts
• reduction in vascular and airway smooth muscle derived from Isl1- and Gli1-positive cardiopulmonary mesoderm progenitors is detected
• pulmonary veins from left atrium to lung are absent
• mutants show reduced muscular development in dorsal wall of atria

endocrine/exocrine glands
• shortened cystic duct at E14.5
• shortened gallbladder at E14.5
• however, the gallbladder epithelium is histologically normal
• formation of smooth muscle layers in gallbladders is delayed and defective

muscle
• reduction in vascular and airway smooth muscle derived from Isl1- and Gli1-positive cardiopulmonary mesoderm progenitors is detected
• mutants show reduced muscular development in dorsal wall of atria
• formation of smooth muscle layers in gallbladders is delayed and defective

growth/size/body
• fetuses are headless

liver/biliary system
• shortened cystic duct at E14.5
• shortened gallbladder at E14.5
• however, the gallbladder epithelium is histologically normal
• formation of smooth muscle layers in gallbladders is delayed and defective
• fetuses exhibit severe growth retardation in the liver without signs of hepatic inflammation

limbs/digits/tail
• a limited skeletal structure consisting of the humerus, radius and single digit 1 is seen

skeleton
• a limited skeletal structure consisting of the humerus, radius and single digit 1 is seen

respiratory system
• airway smooth muscle derived from Isl1- and Gli1-positive cardiopulmonary mesoderm progenitors is significantly reduced; airway smooth muscle development is reduced




Genotype
MGI:3513051
cn2
Allelic
Composition
Shhtm1(EGFP/cre)Cjt/Shhtm2Amc
Genetic
Background
involves: 129/Sv * C57BL/6J * SWR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Shhtm1(EGFP/cre)Cjt mutation (1 available); any Shh mutation (48 available)
Shhtm2Amc mutation (1 available); any Shh mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• homozygous mutants have a cyclopic head similar to Shh null mutants

nervous system
• ventral neural tube patterning defects are seen

embryo
• ventral neural tube patterning defects are seen




Genotype
MGI:6378814
cn3
Allelic
Composition
Shhtm1(EGFP/cre)Cjt/Shh+
Sox9tm2Crm/Sox9tm2Crm
Genetic
Background
B6.Cg-Shhtm1(EGFP/cre)Cjt Sox9tm2Crm
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Shhtm1(EGFP/cre)Cjt mutation (1 available); any Shh mutation (48 available)
Sox9tm2Crm mutation (1 available); any Sox9 mutation (33 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
embryo
• prostatic bud initiation from the urogenital sinus epithelium is unaffected, but buds fail to elongate




Genotype
MGI:4943703
cn4
Allelic
Composition
Dicer1tm1Bdh/Dicer1tm1Bdh
Shhtm1(EGFP/cre)Cjt/Shh+
Genetic
Background
involves: 129
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dicer1tm1Bdh mutation (4 available); any Dicer1 mutation (96 available)
Shhtm1(EGFP/cre)Cjt mutation (1 available); any Shh mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

respiratory system
• at E12.5, fewer branches are observed and the distal tips of the newly formed branches appear dilated
• the number of dilated branching tips observed at E12.5 corresponds to the number of large, fluid-filled sacs seen at E15.5
• defective branching morphogenesis occurs prior to the increased cell death seen in the distal epithelium at E13.0
• at E11.75, expression of Fgf10 (a key gene involved in lung development) is already up-regulated and expanded in the mesenchyme of mutant lungs
• at E15.5, mutant lung epithelial cells form large, fluid-filled sacs within each lobe, indicating a severe branching defect
• at E15.5, the mutant epithelium is often detached from the mesenchyme, unlike in control lungs
• at E12.25, increased epithelial cell death is ectopically observed in the secondary bronchi of mutant lungs in addition to the normal pattern of cell death seen in the trachea and primary bronchi
• at E12.5 and E12.75, intense epithelial cell death is prolonged in the mutant trachea and bronchi, unlike in control and wild type lungs
• by E13.0, aberrant cell death is observed in the entire mutant lung epithelium, including the distal branching region, but not in the mesenchyme
• however, each lobe maintains a normal shape, indicating a normal lobation pattern
• after E13.5, each mutant lung lobe is proportionally smaller than that in control lungs




Genotype
MGI:5522668
cn5
Allelic
Composition
Robo1tm1Matl/Robo1tm1Matl
Robo2tm1Rilm/Robo2tm1Rilm
Shhtm1(EGFP/cre)Cjt/Shh+
Genetic
Background
involves: 129
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Robo1tm1Matl mutation (2 available); any Robo1 mutation (87 available)
Robo2tm1Rilm mutation (1 available); any Robo2 mutation (101 available)
Shhtm1(EGFP/cre)Cjt mutation (1 available); any Shh mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• normal organ position, diaphragm formation and lung inflation




Genotype
MGI:5902326
cn6
Allelic
Composition
Dicer1tm1Bdh/Dicer1+
Yy1tm2.1Yshi/Yy1+
Shhtm1(EGFP/cre)Cjt/Shh+
Genetic
Background
involves: 129 * 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dicer1tm1Bdh mutation (4 available); any Dicer1 mutation (96 available)
Shhtm1(EGFP/cre)Cjt mutation (1 available); any Shh mutation (48 available)
Yy1tm2.1Yshi mutation (0 available); any Yy1 mutation (35 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
respiratory system
N
• embryos do not present lung defects




Genotype
MGI:5751753
cn7
Allelic
Composition
Dicer1tm1Mmk/Dicer1tm1Mmk
Fgf9tm1.1Fwan/Fgf9tm1.1Fwan
Shhtm1(EGFP/cre)Cjt/Shh+
Genetic
Background
involves: 129 * 129S4/SvJaeSor * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dicer1tm1Mmk mutation (0 available); any Dicer1 mutation (96 available)
Fgf9tm1.1Fwan mutation (1 available); any Fgf9 mutation (17 available)
Shhtm1(EGFP/cre)Cjt mutation (1 available); any Shh mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
respiratory system
N
• mice show rescue of the lung phenotypes seen in single conditional Dicer1 mutants, showing smaller lungs with reduced cystic dilation of epithelial ducts




Genotype
MGI:5751752
cn8
Allelic
Composition
Dicer1tm1Mmk/Dicer1tm1Mmk
Fgf9tm1.1Fwan/Fgf9+
Shhtm1(EGFP/cre)Cjt/Shh+
Genetic
Background
involves: 129 * 129S4/SvJaeSor * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dicer1tm1Mmk mutation (0 available); any Dicer1 mutation (96 available)
Fgf9tm1.1Fwan mutation (1 available); any Fgf9 mutation (17 available)
Shhtm1(EGFP/cre)Cjt mutation (1 available); any Shh mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
respiratory system
N
• mice show rescue of the lung phenotypes seen in single conditional Dicer1 mutants, showing smaller lungs, reduced epithelial dilation, mesenchymal thickness and mesenchymal proliferation




Genotype
MGI:5751748
cn9
Allelic
Composition
Dicer1tm1Mmk/Dicer1tm1Mmk
Shhtm1(EGFP/cre)Cjt/Shh+
Genetic
Background
involves: 129 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dicer1tm1Mmk mutation (0 available); any Dicer1 mutation (96 available)
Shhtm1(EGFP/cre)Cjt mutation (1 available); any Shh mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
respiratory system
• E12.5 lungs show increased mesenchymal proliferation
• E14.5 and E16.5 lungs show cystic expansion of the epithelial ducts
• lungs are larger at E12.5 but are similar in size to controls at E14.5 and E16.5
• E12.5, E14.5, and E16.5 lungs exhibit reduced branching
• E12.5 lungs exhibit expanded mesenchyme
• E12.5 lungs exhibit dilated epithelial ducts
• E14.5 and E16.5 lungs show cystic expansion of the epithelial ducts

cellular
• E12.5 lungs show increased mesenchymal proliferation

growth/size/body
• E14.5 and E16.5 lungs show cystic expansion of the epithelial ducts
• lungs are larger at E12.5 but are similar in size to controls at E14.5 and E16.5




Genotype
MGI:5557988
cn10
Allelic
Composition
Sox9tm1Gsr/Sox9tm1Gsr
Shhtm1(EGFP/cre)Cjt/Shh+
Genetic
Background
involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Shhtm1(EGFP/cre)Cjt mutation (1 available); any Shh mutation (48 available)
Sox9tm1Gsr mutation (2 available); any Sox9 mutation (33 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• the 2 pups that survived past birth had to be euthanized by P7
• 1 of 3 pups died at birth

respiratory system
• develop large, cyst-like structures at the distal epithelial branch tips that are the result of larger, rounder branch tips
• cultured lungs from E12.5 embryos show a significant reduction in branching
• branch tips are larger and rounder and lead to large open spaces in the lung
• significant decrease in total lung epithelial cell proliferation at E14.5 resulting from a decrease in proliferation of the distal tip epithelium
• distal epithelial tips show a range of defects including absence of microvilli, apical membranous blebs and disrupted cell-cell adhesion
• the basal epithelial surface is not uniform and many cells have a rounded appearance with membranous blebs projecting into the subcellular space
• the extracellular matrix and stabilized tubulin appear disrupted at the basal surfaces
• noticeable by E14.5 and more significant by E16.5
• pups that survive birth have difficulty breathing

cellular
• apparent precocious differentiation of distal tip progenitor cells into type 2 alveolar cells at E14.5
• migration of epithelial cells from cultured E12.5 lung buds is decreased compared to controls
• significant decrease in total lung epithelial cell proliferation at E14.5 resulting from a decrease in proliferation of the distal tip epithelium

growth/size/body
• develop large, cyst-like structures at the distal epithelial branch tips that are the result of larger, rounder branch tips




Genotype
MGI:6378813
cn11
Allelic
Composition
Ift88tm1Bky/Ift88tm1Bky
Shhtm1(EGFP/cre)Cjt/Shh+
Genetic
Background
involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ift88tm1Bky mutation (1 available); any Ift88 mutation (48 available)
Shhtm1(EGFP/cre)Cjt mutation (1 available); any Shh mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• variable penetrance of highly disorganized palatal rugae. including waved, folded, supernumerary, absence, shortened and fragmented palatal rugae, observed in the intermolar rugae
• no obvious anomalies were found in the antemolar rugae

digestive/alimentary system
• variable penetrance of highly disorganized palatal rugae. including waved, folded, supernumerary, absence, shortened and fragmented palatal rugae, observed in the intermolar rugae
• no obvious anomalies were found in the antemolar rugae

growth/size/body
• variable penetrance of highly disorganized palatal rugae. including waved, folded, supernumerary, absence, shortened and fragmented palatal rugae, observed in the intermolar rugae
• no obvious anomalies were found in the antemolar rugae




Genotype
MGI:5588383
cn12
Allelic
Composition
Gt(ROSA)26Sortm1(Grem1)Svok/Gt(ROSA)26Sor+
Shhtm1(EGFP/cre)Cjt/0
Genetic
Background
involves: 129S1/Sv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1(Grem1)Svok mutation (1 available); any Gt(ROSA)26Sor mutation (993 available)
Shhtm1(EGFP/cre)Cjt mutation (1 available); any Shh mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• hindlimbs from some E18.5 embryos have multiple posterior distal bifurcations (1/4)
• forelimbs from some E18.5 embryos have large nubs in the posterior (3/4)
• hindlimbs from some E18.5 embryos have posterior polydactyly (3/4)
• forelimbs from some E18.5 embryos have preaxial polydactyly (1/4)

skeleton
• hindlimbs from some E18.5 embryos have multiple posterior distal bifurcations (1/4)
• forelimbs from some E18.5 embryos have large nubs in the posterior (3/4)




Genotype
MGI:7437679
cn13
Allelic
Composition
Sp8tm1Smb/Sp8tm1Smb
Shhtm1(EGFP/cre)Cjt/Shh+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Shhtm1(EGFP/cre)Cjt mutation (1 available); any Shh mutation (48 available)
Sp8tm1Smb mutation (0 available); any Sp8 mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
N
• mice show partial craniofacial rescue of anterior structures; the medial facial prominences partially merge with the lateral and maxillary prominences to form an identifiable snout by E18.5
• despite partial rescue of anterior structures, the more dorsal structures of the skull and forehead are not rescued

vision/eye
• mice display an inner canthal distance of 5.33 mm +/- 0.26 mm relative to 4.4 mm +/- 0.09 mm for wild-type controls and 6.1 mm +/- 0.45 mm for Sp8tm1Smb homozygotes with two wild-type Shh alleles, indicating partial rescue of the hypertelorism phenotype




Genotype
MGI:4361162
cn14
Allelic
Composition
Ctnnb1tm2Kem/Ctnnb1tm2Kem
Shhtm1(EGFP/cre)Cjt/Shh+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ctnnb1tm2Kem mutation (1 available); any Ctnnb1 mutation (49 available)
Shhtm1(EGFP/cre)Cjt mutation (1 available); any Shh mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
respiratory system
• mice exhibit an expansion of lung endoderm progenitor cells into the stomach unlike in wild-type mice
• mice lack tracheal budding
• mice lack lung specification




Genotype
MGI:5694226
cn15
Allelic
Composition
Fgfr1tm1Jpa/Fgfr1tm1Jpa
Fgfr2tm1Dor/Fgfr2tm1Dor
Shhtm1(EGFP/cre)Cjt/Shh+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr1tm1Jpa mutation (0 available); any Fgfr1 mutation (223 available)
Fgfr2tm1Dor mutation (3 available); any Fgfr2 mutation (90 available)
Shhtm1(EGFP/cre)Cjt mutation (1 available); any Shh mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
N
• mice exhibit normal early growth, size and shape of genital tubercles

renal/urinary system
• abnormal maturation of urethral epithelium




Genotype
MGI:5694211
cn16
Allelic
Composition
Ctnnb1tm2Kem/Ctnnb1tm2Kem
Gt(ROSA)26Sortm1(Fgf8)Lma/Gt(ROSA)26Sor+
Shhtm1(EGFP/cre)Cjt/Shh+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ctnnb1tm2Kem mutation (1 available); any Ctnnb1 mutation (49 available)
Gt(ROSA)26Sortm1(Fgf8)Lma mutation (0 available); any Gt(ROSA)26Sor mutation (993 available)
Shhtm1(EGFP/cre)Cjt mutation (1 available); any Shh mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
N
• a cone-shaped tubercle structure is discernable unlike in urethral epithelium knock-out of beta-catenin
• mice exhibit failed cloaca septation

limbs/digits/tail




Genotype
MGI:5557985
cn17
Allelic
Composition
Gt(ROSA)26Sortm1(tetO-Sox9)Msan/Gt(ROSA)26Sortm1(rtTA,EGFP)Nagy
Shhtm1(EGFP/cre)Cjt/Shh+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1(rtTA,EGFP)Nagy mutation (5 available); any Gt(ROSA)26Sor mutation (993 available)
Gt(ROSA)26Sortm1(tetO-Sox9)Msan mutation (0 available); any Gt(ROSA)26Sor mutation (993 available)
Shhtm1(EGFP/cre)Cjt mutation (1 available); any Shh mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
respiratory system
• decrease in airway spaces at E18.5
• develop large, cyst-like structures at the distal epithelial branch tips
• cystic buds appear to collapse by E18.5
• noticeable by E14.5 and more significant by E16.5

growth/size/body
• develop large, cyst-like structures at the distal epithelial branch tips
• cystic buds appear to collapse by E18.5




Genotype
MGI:5433105
cn18
Allelic
Composition
Foxp4tm2.1Eem/Foxp4tm2.1Eem
Shhtm1(EGFP/cre)Cjt/Shh+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxp4tm2.1Eem mutation (0 available); any Foxp4 mutation (91 available)
Shhtm1(EGFP/cre)Cjt mutation (1 available); any Shh mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• mice exhibit normal prenatal and postnatal survival




Genotype
MGI:5433106
cn19
Allelic
Composition
Foxp1tm1.1Pwt/Foxp1tm1.1Pwt
Foxp4tm2.1Eem/Foxp4tm2.1Eem
Shhtm1(EGFP/cre)Cjt/Shh+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxp1tm1.1Pwt mutation (1 available); any Foxp1 mutation (77 available)
Foxp4tm2.1Eem mutation (0 available); any Foxp4 mutation (91 available)
Shhtm1(EGFP/cre)Cjt mutation (1 available); any Shh mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die within minutes of birth of apparent respiratory distress

respiratory system
• in the proximal airways at E18.5
• as determined by marker expression, mice exhibit an increase in ciliated epithelial cell differentiation compared with control mice




Genotype
MGI:7518701
cn20
Allelic
Composition
Chd7tm1.1Dmm/Chd7tm1.1Dmm
Gt(ROSA)26Sortm6(CAG-ZsGreen1)Hze/Gt(ROSA)26Sor+
Shhtm1(EGFP/cre)Cjt/Shh+
Genetic
Background
involves: 129S1/SvlmJ * 129S6/SvEvTac * C57BL/6J * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chd7tm1.1Dmm mutation (1 available); any Chd7 mutation (138 available)
Gt(ROSA)26Sortm6(CAG-ZsGreen1)Hze mutation (1 available); any Gt(ROSA)26Sor mutation (993 available)
Shhtm1(EGFP/cre)Cjt mutation (1 available); any Shh mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
N
• normal hair cells and neurites at P1 in the cochlea




Genotype
MGI:5904347
cn21
Allelic
Composition
E2f4tm2.1Lees/E2f4tm2.1Lees
Shhtm1(EGFP/cre)Cjt/Shh+
Genetic
Background
involves: 129S4/SvJae * 129S4/SvJaeSor * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
E2f4tm2.1Lees mutation (1 available); any E2f4 mutation (21 available)
Shhtm1(EGFP/cre)Cjt mutation (1 available); any Shh mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
respiratory system
• mice are unable to form multiciliated cells and unable to form deuterosomes and Pcm1-containing aggregates in lung epithelium
• however, primary cilia formation occurs

cellular
• mice are unable to form multiciliated cells and unable to form deuterosomes and Pcm1-containing aggregates in lung epithelium
• however, primary cilia formation occurs




Genotype
MGI:5902322
cn22
Allelic
Composition
Yy1tm2.1Yshi/Yy1tm2.1Yshi
Shhtm1(EGFP/cre)Cjt/Shh+
Genetic
Background
involves: 129S4/SvJae * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Shhtm1(EGFP/cre)Cjt mutation (1 available); any Shh mutation (48 available)
Yy1tm2.1Yshi mutation (0 available); any Yy1 mutation (35 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• all newborns die at birth from respiratory failure

growth/size/body
• E18.5 lungs show the presence of dilated fluid-filled sacs
• proliferation assays in lungs from E18.5 fetuses show an increase in cell proliferation in cystic walls
• neither secretory club (Clara) cells or ciliated cells are seen in cyst epithelium at E18.5 and cysts are lined by Type II and Type I pneumocytes
• a microvascular network is present in the parenchyma forming the cyst walls
• E12.5 lungs show two hypoplastic lobes instead of the expected asymmetric pattern of 4 right lobes and 1 left lobe

respiratory system
• apoptosis is increased in lung mesenchyme at E14.5
• E12.5 embryos cultured in vitro show increased apoptosis in the lung
• the addition of recombinant mouse SHH into the media rescues the increased apoptosis
• E18.5 lungs exhibit a disorganized architecture
• E18.5 lungs show the presence of dilated fluid-filled sacs
• proliferation assays in lungs from E18.5 fetuses show an increase in cell proliferation in cystic walls
• neither secretory club (Clara) cells or ciliated cells are seen in cyst epithelium at E18.5 and cysts are lined by Type II and Type I pneumocytes
• a microvascular network is present in the parenchyma forming the cyst walls
• E12.5 lungs show two hypoplastic lobes instead of the expected asymmetric pattern of 4 right lobes and 1 left lobe
• marker analysis indicates altered patterning and cell differentiation in the lung
• branching morphogenesis in the lung is inhibited, however, distal epithelial cell differentiation is maintained
• E12.5 embryos cultured in vitro fail with branching of lung
• the addition of recombinant mouse SHH into the media does not rescue the branching defect
• impairment of peribronchial smooth muscle differentiation as indicated by a lack of markers of airway smooth muscle differentiation around cysts
• lung epithelium exhibits an abnormal stratified structure at E12.5
• club (Clara) cells are scarce in the proximal airways
• basal cells are distributed irregularly along the proximal airways of embryos, although the number of basal cells is not altered
• goblet cells are scarce in the proximal airways
• trachea is thinner with disorganized cartilage rings
• trachea is longer
• ciliated cells are scarce in the airways
• trachea shows abnormal formation of cartilage rings
• reduction in lung epithelium proliferation at E12.5

cellular
• apoptosis is increased in lung mesenchyme at E14.5
• E12.5 embryos cultured in vitro show increased apoptosis in the lung
• the addition of recombinant mouse SHH into the media rescues the increased apoptosis
• differentiation of airway myofibroblasts is impaired

skeleton
• trachea shows abnormal formation of cartilage rings




Genotype
MGI:3607119
cn23
Allelic
Composition
Fgfr1tm3.1Cxd/Fgfr1tm3.2Cxd
Shhtm1(EGFP/cre)Cjt/Shh+
Genetic
Background
involves: 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr1tm3.1Cxd mutation (0 available); any Fgfr1 mutation (223 available)
Fgfr1tm3.2Cxd mutation (0 available); any Fgfr1 mutation (223 available)
Shhtm1(EGFP/cre)Cjt mutation (1 available); any Shh mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• at E18.5 a single digit (probably digit 3) is absent on autopods of both the fore and hindlimbs
• at E11.5, limb bud size is normal but only 4 digit condensations are present and the 2 middle condensations are farther apart than normal




Genotype
MGI:3606229
cn24
Allelic
Composition
Fgfr1tm3.2Cxd/Fgfr1tm3.2Cxd
Shhtm1(EGFP/cre)Cjt/Shh+
Genetic
Background
involves: 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr1tm3.2Cxd mutation (0 available); any Fgfr1 mutation (223 available)
Shhtm1(EGFP/cre)Cjt mutation (1 available); any Shh mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• at E18.5 a single digit (probably digit 3) is absent on autopods of both the fore and hindlimbs
• at E11.5, limb bud size is normal but only 4 digit condensations are present and the 2 middle condensations are farther apart than normal




Genotype
MGI:5495282
cn25
Allelic
Composition
Wnt1tm1.1Mze/Wnt1tm1.1Mze
Gt(ROSA)26Sortm14(CAG-tdTomato)Hze/Gt(ROSA)26Sor+
Shhtm1(EGFP/cre)Cjt/Shh+
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm14(CAG-tdTomato)Hze mutation (5 available); any Gt(ROSA)26Sor mutation (993 available)
Shhtm1(EGFP/cre)Cjt mutation (1 available); any Shh mutation (48 available)
Wnt1tm1.1Mze mutation (0 available); any Wnt1 mutation (31 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• significant increase of the number of differentiated MbDA neurons at E11.5
• significant increase in the number of Ki67+ progenitors in the differentiating zone in medial planes
• depletion of medial MbDA neurons and expansion of more laterally positioned MbDA neurons at E12.5
• depletion of medial MbDA neurons

cellular
• significant increase of the number of differentiated MbDA neurons at E11.5
• significant increase in the number of Ki67+ progenitors in the differentiating zone in medial planes




Genotype
MGI:5305710
cn26
Allelic
Composition
Bmpr1atm2.1Bhr/Bmpr1atm2.1Bhr
Shhtm1(EGFP/cre)Cjt/?
Genetic
Background
involves: 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1atm2.1Bhr mutation (1 available); any Bmpr1a mutation (90 available)
Shhtm1(EGFP/cre)Cjt mutation (1 available); any Shh mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most homozygotes die in utero or at birth
• some survival to 9 days of age




Genotype
MGI:3513044
cn27
Allelic
Composition
Disp1tm2.1Amc/Disp1tm2Amc
Shhtm1(EGFP/cre)Cjt/Shh+
Genetic
Background
involves: 129/Sv * C57BL/6J * SWR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Disp1tm2.1Amc mutation (0 available); any Disp1 mutation (61 available)
Disp1tm2Amc mutation (1 available); any Disp1 mutation (61 available)
Shhtm1(EGFP/cre)Cjt mutation (1 available); any Shh mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

craniofacial
• ossification of the parietal bone is delayed
• abnormally close association of the nasal pits
• facial midline defects are seen

skeleton
• ossification of the parietal bone is delayed

nervous system
• the ventral midline cells are an intermediate state between pV3 and floor plate and fewer ventral progenitor cells are seen

respiratory system
• abnormally close association of the nasal pits

cellular
• the ventral midline cells are an intermediate state between pV3 and floor plate and fewer ventral progenitor cells are seen

growth/size/body
• facial midline defects are seen




Genotype
MGI:3513048
cn28
Allelic
Composition
Disp1icb/Disp1tm2Amc
Shhtm1(EGFP/cre)Cjt/Shh+
Genetic
Background
involves: 129/Sv * C57BL/6J * SWR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Disp1icb mutation (0 available); any Disp1 mutation (61 available)
Disp1tm2Amc mutation (1 available); any Disp1 mutation (61 available)
Shhtm1(EGFP/cre)Cjt mutation (1 available); any Shh mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

craniofacial
• fusion of the nasal pits
• facial midline defects are seen

skeleton

nervous system
• pMN and pV3 progenitor cells are found at the midline and are reduced in numbers to less than 10% wild-type

embryo

respiratory system
• fusion of the nasal pits

cellular
• pMN and pV3 progenitor cells are found at the midline and are reduced in numbers to less than 10% wild-type

growth/size/body
• facial midline defects are seen




Genotype
MGI:5544581
cn29
Allelic
Composition
Ctnnb1tm1Mmt/Ctnnb1tm1Mmt
Shhtm1(EGFP/cre)Cjt/Shh+
Genetic
Background
involves: 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ctnnb1tm1Mmt mutation (0 available); any Ctnnb1 mutation (49 available)
Shhtm1(EGFP/cre)Cjt mutation (1 available); any Shh mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
respiratory system
• in absence of lung formation, the pulmonary vascular plexus persists throughout embryonic development, but does not branch or develop further
• lungs fail to develop from the foregut
• lung agenesis is found in embryos examined at E13.5 and E17.5

cardiovascular system
N
• although no lungs develop, heart development and outflow and inflow tract structures are relatively normal, including atrial septation, septation between aorta and the pulmonary trunk, and atrioventricular canal development
• primitive non-branched pulmonary arteries which flank the esophagus and originate from the pulmonary trunk persist in E17.5 embryos
• pulmonary veins and pulmonary arteries develop and intersect at approximate location where a lung bud would be present in a normal embryo
• in absence of lung formation, the pulmonary vascular plexus persists throughout embryonic development, but does not branch or develop further

digestive/alimentary system




Genotype
MGI:3054017
cn30
Allelic
Composition
Disp1icb/Disp1tm1Amc
Shhtm1(EGFP/cre)Cjt/Shh+
Genetic
Background
involves: 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Disp1icb mutation (0 available); any Disp1 mutation (61 available)
Disp1tm1Amc mutation (0 available); any Disp1 mutation (61 available)
Shhtm1(EGFP/cre)Cjt mutation (1 available); any Shh mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• digit 2 is absent, all other digits are present




Genotype
MGI:3777639
cn31
Allelic
Composition
Gt(ROSA)26Sortm4(CAG-lacZ,-EGFP)Dym/Gt(ROSA)26Sor+
Shhtm1(EGFP/cre)Cjt/Shh+
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm4(CAG-lacZ,-EGFP)Dym mutation (0 available); any Gt(ROSA)26Sor mutation (993 available)
Shhtm1(EGFP/cre)Cjt mutation (1 available); any Shh mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
integument
• the mean overall thickness of the skin of E18.5 embryos is reduced by 10% compared to wild-type embryos
• the mean thickness of the epidermis of E18.5 embryos is slightly but significantly reduced by 4% compared to wild-type embyros




Genotype
MGI:5305711
cn32
Allelic
Composition
Gt(ROSA)26Sortm1(CAG-Bmpr1a)Que/Gt(ROSA)26Sor+
Shhtm1(EGFP/cre)Cjt/?
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1(CAG-Bmpr1a)Que mutation (0 available); any Gt(ROSA)26Sor mutation (993 available)
Shhtm1(EGFP/cre)Cjt mutation (1 available); any Shh mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• all heterozygotes die before 5 days of age

digestive/alimentary system
• simple columnar epithelial cells along the esophagus at E15.5, primarily ventrally
• scattered appearance of simple columnar epithelium in the forestomach at E15.5 and at birth




Genotype
MGI:5694220
cn33
Allelic
Composition
Gt(ROSA)26Sortm2(Sp8)Lma/Gt(ROSA)26Sor+
Shhtm1(EGFP/cre)Cjt/Shh+
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm2(Sp8)Lma mutation (0 available); any Gt(ROSA)26Sor mutation (993 available)
Shhtm1(EGFP/cre)Cjt mutation (1 available); any Shh mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
N
• mice exhibit normal appendage development




Genotype
MGI:6113949
cx34
Allelic
Composition
Shhtm1(EGFP/cre)Cjt/Shh+
Sox17tm1Ysk/Sox17+
Genetic
Background
involves: 129S1/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Shhtm1(EGFP/cre)Cjt mutation (1 available); any Shh mutation (48 available)
Sox17tm1Ysk mutation (0 available); any Sox17 mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
endocrine/exocrine glands
• formation of smooth muscle layers in gallbladders is more severely delayed and defective than in either single mutant

muscle
• formation of smooth muscle layers in gallbladders is more severely delayed and defective than in either single mutant

liver/biliary system
• formation of smooth muscle layers in gallbladders is more severely delayed and defective than in either single mutant





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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory