Phenotypes associated with this allele

• Allele Symbol: Shh^tm2Chg
• Allele Name: targeted mutation 2, Chin Chiang
• Allele ID: MGI:3628824
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Shh^tm2Chg/Shh^tm2Chg	involves: 129S1/Sv * 129X1/SvJ	MGI:3687545
cn2	Shh^tm1Chg/Shh^tm2Chg Tg(Mef2c-cre)2Blk/0	involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ	MGI:4843920
cn3	Shh^tm1Chg/Shh^tm2Chg Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA	MGI:3687543
cn4	Shh^tm2Chg/Shh^+ Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA	MGI:3687544
cn5	Disp1^tm1Pab/Disp1^tm1Pab Shh^tm2Chg/Shh^+ Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA	MGI:3687546

Genotype
MGI:3687545

hm1

• Allelic Composition: Shh^tm2Chg/Shh^tm2Chg
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

mortality/aging

neonatal lethality, complete penetrance ( J:109101 )

• die shortly after birth, however limb skeletal patterns remain relatively unaffected

Genotype
MGI:4843920

cn2

• Allelic Composition: Shh^tm1Chg/Shh^tm2Chg; Tg(Mef2c-cre)2Blk/0
• Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ

cardiovascular system

cardiovascular system phenotype ( J:135134 )

N • mice exhibit normal outflow tracts

abnormal artery morphology ( J:135134 )

• at E18.5, 4 of 16 mice exhibit abnormal arch-artery patterning compared with wild-type mice

persistent truncus arteriosus ( J:135134 )

• in 14 of 16 mice

• however, mice exhibit normal outflow tract length with no increase in apoptosis

Genotype
MGI:3687543

cn3

• Allelic Composition: Shh^tm1Chg/Shh^tm2Chg; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

mortality/aging

perinatal lethality ( J:125109 )

limbs/digits/tail

abnormal carpal bone morphology ( J:109101 )

• exhibit defective development of the carpal and tarsal bones in the central digit

abnormal digit morphology ( J:109101 )

• in the forelimb, digit 2 is replaced with a biphalangeal digit characteristic of digit 1

• in the hindlimb, digit 1 is replaced by digits with more posterior characteristics

abnormal tarsal bone morphology ( J:109101 )

• exhibit defective development of the carpal and tarsal bones in the central digit

skeleton

abnormal carpal bone morphology ( J:109101 )

• exhibit defective development of the carpal and tarsal bones in the central digit

abnormal tarsal bone morphology ( J:109101 )

• exhibit defective development of the carpal and tarsal bones in the central digit

Genotype
MGI:3687544

cn4

• Allelic Composition: Shh^tm2Chg/Shh⁺; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

mortality/aging

perinatal lethality, complete penetrance ( J:125109 )

• animals die perinatally

nervous system

holoprosencephaly ( J:125109 )

• brain defects mimic human holoprosencephaly but external craniofacial morphology is relatively unaffected

increased forebrain size ( J:125109 )

• enlarged

increased midbrain size ( J:125109 )

• enlarged midbrain

enlarged brain ventricles ( J:125109 )

• ventricles are enlarged at E10.5

abnormal choroid plexus morphology ( J:125109 )

• development is defective at E13.5

abnormal telencephalon morphology ( J:125109 )

• telencephalic ventricles are widely separated at E10.5

• at E12.5, telencephalon lacks thickened hippocampal neuroepithelium

• at E10.5 dorsal midline has failed to invaginate in contrast to wild-type

abnormal hippocampus development ( J:125109 )

• defective at E13.5

abnormal telencephalon development ( J:125109 )

• apoptotic activity is eliminated in dorsal midline of telencephalon in contrast to wild-type at E9.5; apoptosis is 7-fold lower than in wild-type

• at E10, proliferation in roof plate region is similar to adjacent tissues and higher than seen in wild-type whereas proliferation is differentially reduced in wild-type embryo roof plate region

• dorsal midline is severely hypoplastic and lacks conjunction of corpus callosum and septum

• increased proliferation and decreased apoptosis persists at E10.5

• telencephalon lacks middle anterior commissure and characteristic choroid plexuses and hippocampal structures that are seen in wild-type; telencephalon lacks well-formed U-shaped hippocampus and ventricles are separated by enlarged thalamus

abnormal corpus callosum morphology ( J:125109 )

• frequent agenesis of dorsal corpus callosum is seen

absent olfactory bulb ( J:125109 )

• mutants lack olfactory bulbs

abnormal embryonic/fetal subventricular zone morphology ( J:125109 )

• a third eminence in addition to LGE and MGE is observed in mutants at E12.5

abnormal lateral ganglionic eminence morphology ( J:125109 )

• eminence is expanded at expense of cortical domain of telencephalon

abnormal medial ganglionic eminence morphology ( J:125109 )

• eminence is expanded at expense of cortical domain of telencephalon

craniofacial

abnormal neurocranium morphology ( J:125109 )

• many embryos display bulging cranium

abnormal maxillary shelf morphology ( J:125109 )

• the maxillary shelves are not fully mineralized in the mutant

palatal shelves fail to meet at midline ( J:125109 )

• palatal shelves fail to fuse; at E15.5, skeletal staining further shows the presence of widely separated palatal shelves

cleft secondary palate ( J:125109 )

• mutants have cleft secondary palate

digestive/alimentary system

abnormal maxillary shelf morphology ( J:125109 )

• the maxillary shelves are not fully mineralized in the mutant

palatal shelves fail to meet at midline ( J:125109 )

• palatal shelves fail to fuse; at E15.5, skeletal staining further shows the presence of widely separated palatal shelves

cleft secondary palate ( J:125109 )

• mutants have cleft secondary palate

skeleton

abnormal neurocranium morphology ( J:125109 )

• many embryos display bulging cranium

abnormal maxillary shelf morphology ( J:125109 )

• the maxillary shelves are not fully mineralized in the mutant

limbs/digits/tail

polydactyly ( J:109101 )

• develop six to seven digits per limb with complete formation of digits 2-5 (preaxial polydactyly)

growth/size/body

abnormal maxillary shelf morphology ( J:125109 )

• the maxillary shelves are not fully mineralized in the mutant

palatal shelves fail to meet at midline ( J:125109 )

• palatal shelves fail to fuse; at E15.5, skeletal staining further shows the presence of widely separated palatal shelves

cleft secondary palate ( J:125109 )

• mutants have cleft secondary palate

Genotype
MGI:3687546

cn5

• Allelic Composition: Disp1^tm1Pab/Disp1^tm1Pab; Shh^tm2Chg/Shh⁺; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

mortality/aging

perinatal lethality, complete penetrance ( J:109101 )

• survive to at least E18.5

limbs/digits/tail

abnormal digit morphology ( J:109101 )

• digits show segmentation and calcification defects

preaxial polydactyly ( J:109101 )

• develop 6-7 digits per limb (preaxial polydactyly)