Phenotypes associated with this allele

• Allele Symbol: Ttn^shru
• Allele Name: shrunken head
• Allele ID: MGI:2159020
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ttn^shru/Ttn^shru	B6.BTBR-Ttn^shru	MGI:2668651

Genotype
MGI:2668651

hm1

• Allelic Composition: Ttn^shru/Ttn^shru
• Genetic Background: B6.BTBR-Ttn^shru

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

craniofacial

abnormal first pharyngeal arch morphology ( J:92178 )

• at E9.0 cell loss in mandibular component of first branchial arch

cardiovascular system

abnormal cardiovascular system morphology ( J:74786 )

• this locus regulates endothelial cell shapes and their distributions to control vascular morphogenesis

abnormal blood vessel morphology ( J:92178 )

• defects in endothelial cell positioning and extensive areas of cell to cell contact

trabecula carnea hypoplasia ( J:92178 )

• number and extent of trabelcular projections from the myocardium are reduced

abnormal cardiovascular development ( J:92178 )

abnormal angiogenesis ( J:92178 )

• aberrant sprouting and pruning

abnormal dorsal aorta morphology ( J:92178 )

• vessel lumen maintenance disrupted or absent along the dorsal aorta

• variation in width of lumen along dorsal aorta

absent organized vascular network ( J:92178 )

• vessel lumen maintenance disrupted or absent along the dorsal aorta

• endothelial cells mispositioned along anterior-posterior axis

abnormal heart development ( J:92178 )

• misaligned myocardial and endocardial cells

pericardial edema ( J:92178 )

• edema develops by 9.5 dpc, followed by heart failure

abnormal blood circulation ( J:92178 )

• delayed initiation of blood circulation

hemorrhage ( J:92178 )

• local areas of hemorrhage in embryonic head, branchial arches and limb buds following delayed initiation of circulation

decreased cardiac muscle contractility ( J:92178 )

• embryo hearts display weak spontaneous contractions and never develop regular rhythm

embryo

abnormal first pharyngeal arch morphology ( J:92178 )

• at E9.0 cell loss in mandibular component of first branchial arch

decreased embryo size ( J:92178 )

• reduction of growth occurs after 8.5 dpc, most prominently in the head

abnormal frontonasal mesenchyme morphology ( J:92178 )

• at E8.75, embryos show necrosis in frontonasal mesenchyme

abnormal somite development ( J:92178 )

• at E9.0 cell loss is seen in the interior of somites

abnormal vitelline vascular remodeling ( J:92178 )

• yolk sac blood vessels retain primary vascular plexus architecture by 9.5 dpc, undergo little, if any, angiogenesis

• 10.5 dpc yolk sacs appear avascular

cellular

increased apoptosis ( J:74786 )

• there is a requirement for this locus to prevent apoptosis in the mesenchyme of the frontonasal mass, first branchial arch and somites during development

cellular necrosis ( J:92178 )

growth/size/body

decreased embryo size ( J:92178 )

• reduction of growth occurs after 8.5 dpc, most prominently in the head

abnormal frontonasal mesenchyme morphology ( J:92178 )

• at E8.75, embryos show necrosis in frontonasal mesenchyme

microcephaly ( J:92178 )

• 8.75 dpc embryos show necrosis in frontonasal mesenchyme, cell loss in head and somites

• vessels develop large dilations, and undergo aberrant sprouting and pruning

• endothelial cells develop a spreading, globular profile; some cells have abnormal cellular protrusions

homeostasis/metabolism

pericardial edema ( J:92178 )

• edema develops by 9.5 dpc, followed by heart failure

hypoxia ( J:92178 )

• lack of circulation

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:92178 )

• heart failure by 11.5 dpc

muscle

trabecula carnea hypoplasia ( J:92178 )

• number and extent of trabelcular projections from the myocardium are reduced

decreased cardiac muscle contractility ( J:92178 )

• embryo hearts display weak spontaneous contractions and never develop regular rhythm