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Phenotypes Associated with This Genotype
Genotype
MGI:2173405
Allelic
Composition
Shhtm1Chg/Shhtm1Chg
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Shhtm1Chg mutation (1 available); any Shh mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most die at or just before birth

embryo
• indistinct midline at E8.5
• the ventral lips of the cephalic folds are fused and the floor and roof of the neural tube are almost in contact with each other at the mesencephalic/diencephalic junction at E9.5
• absent floor plate at E9.5, with the ventral region of the neural tube consisting instead of a thick epithelium (J:35802)
• at E10.5 (J:73074)
• rostral-to-caudal loss of notochord tissue

nervous system
• the ventral lips of the cephalic folds are fused and the floor and roof of the neural tube are almost in contact with each other at the mesencephalic/diencephalic junction at E9.5
• absent floor plate at E9.5, with the ventral region of the neural tube consisting instead of a thick epithelium (J:35802)
• at E10.5 (J:73074)
• size is reduced
• ventral forebrain structures are lost
• most of the diencephalon as an identifiable structure is absent
• the bilateral lobes of the telencephalon are fused to form a single midline structure
• absent motor neurons
• absent from the spinal cord at E10.5

skeleton
• absence or fusion of the paired distal limb bones
• have a bony extension of the humerus in the forelimb
• the fibula is absent in the hindlimb
• the tibia is absent in the hindlimb
• most sclerotomal derivatives are absent
• craniofacial bones are severely affected and almost entirely absent
• most of the ribs are absent, with only 5-6 rib cartilages remaining
• most sclerotomal derivatives including the entire vertebral column are absent, with only 5-6 rib cartilages remaining
• cartilage is absent at the elbow joint

limbs/digits/tail
• have a bony extension of the humerus in the forelimb
• lack distinct forelimbs at E15.5
• the fibula is absent in the hindlimb
• the tibia is absent in the hindlimb
• lack distinct hindlimbs at E15.5
• distal truncations of the forelimb skeleton and loss of the autopod at E14.5

vision/eye
• there is no invagination to form the double-layered optic cups
• the optic stalks are deficient or absent
• optic vesicles are fused at the midline at E9.5, the optic stalks are deficient or absent, and there is no invagination to form the double-layered optic cups
• at E10.5 (J:73074)

craniofacial
• normal facial features such as the eyes, nose, and oral structures are not identifiable by E15.5
• craniofacial bones are severely affected and almost entirely absent
• have a single nasal pit at the midline instead of bilateral pits at E10.5

cardiovascular system
• abnormalities in the heart although asymmetry or early heart looping appears normal

renal/urinary system

respiratory system
• have a single nasal pit at the midline instead of bilateral pits at E10.5

digestive/alimentary system

growth/size/body
• exhibit severe growth retardation throughout most of the embryo by E15.5

cellular
• in the neural tube and somites

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
holoprosencephaly 3 DOID:0110875 OMIM:142945
J:35802


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/16/2021
MGI 6.16
The Jackson Laboratory