Phenotypes Associated with This Genotype

Genotype
MGI:3796551

• Allelic Composition: Gna11^tm1Soff/Gna11^tm1Soff; Gnaq^tm2Soff/Gnaq^tm2Soff; Tg(PTH-cre)4167Slib/0
• Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6

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

mortality/aging

postnatal lethality ( J:116986 )

growth/size/body

short snout ( J:116986 )

• anterior-posterior shortening of craniofacial complex is most pronounced in the snout

decreased body weight ( J:116986 )

• drastically reduced P9 compared to controls

decreased body length ( J:116986 )

• drastically reduced P9 compared to controls

proportional dwarf ( J:116986 )

• severe dwarfism by P9

postnatal growth retardation ( J:116986 )

• internal organs are reduced in size according to general growth retardation of mutants

craniofacial

wide cranial sutures ( J:116986 )

• sutures are much wider than in controls

domed cranium ( J:116986 )

• doming of cranial vault is observed at P9

short snout ( J:116986 )

• anterior-posterior shortening of craniofacial complex is most pronounced in the snout

skeleton

wide cranial sutures ( J:116986 )

• sutures are much wider than in controls

domed cranium ( J:116986 )

• doming of cranial vault is observed at P9

rachitic rosary ( J:116986 )

• bulging of costochondral junction (rachitic rosary) is observed in ribs

decreased bone mineral density ( J:116986 )

• severe osteopenia is observed throughout the skeleton

abnormal epiphyseal plate morphology ( J:116986 )

• all growth plates display rachitic changes

abnormal bone mineralization ( J:116986 )

• barely detectable in bones of paws and caudal vertebrae at P9

• mineralization of ventral ribs is lacking

delayed endochondral bone ossification ( J:116986 )

• noted in cervical and caudal vertebrae, bones of paws, and all long bones

• epiphyseal ossification of femur and tibia is lacking at P9

increased bone resorption ( J:116986 )

• evidence of bone resorption is observed in mutants at P9

endocrine/exocrine glands

abnormal parathyroid gland morphology ( J:116986 )

• proliferation of cells is significantly enhance compared to controls

small thyroid gland ( J:116986 )

• massively growth-retarded

homeostasis/metabolism

increased circulating parathyroid hormone level ( J:116986 )

• significantly increased levels are observed at P9

increased urine calcium level ( J:116986 )

• urine calcium level is strongly increased

renal/urinary system

increased urine calcium level ( J:116986 )

• urine calcium level is strongly increased

respiratory system

abnormal larynx morphology ( J:116986 )

• massively growth-retarded