Phenotypes associated with this allele

• Allele Symbol: Tg(PTH-cre)4167Slib
• Allele Name: transgene insertion 4167, Steven K Libutti
• Allele ID: MGI:2683304
• Summary: 8 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Gna11^tm1Soff/Gna11^tm1Soff Gnaq^tm2Soff/Gnaq^tm2Soff Tg(PTH-cre)4167Slib/0	involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6	MGI:3796551
cn2	Gna11^tm1Soff/Gna11^+ Gnaq^tm2Soff/Gnaq^tm2Soff Tg(PTH-cre)4167Slib/0	involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6	MGI:3796552
cn3	Gna11^tm1Soff/Gna11^tm1Soff Gnaq^tm2Soff/Gnaq^+ Tg(PTH-cre)4167Slib/0	involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6	MGI:3796553
cn4	Casr^tm1Wch/Casr^+ Tg(PTH-cre)4167Slib/0	involves: 129S4/SvJae * C57BL/6 * FVB	MGI:5306890
cn5	Casr^tm1Wch/Casr^tm1Wch Tg(PTH-cre)4167Slib/0	involves: 129S4/SvJae * C57BL/6 * FVB	MGI:5306889
cn6	Cdc73^tm1Btt/Cdc73^tm1Btt Tg(PTH-cre)4167Slib/0	Not Specified	MGI:5925397
cn7	Men1^tm1.2Ctre/Men1^tm1.2Ctre Tg(PTH-cre)4167Slib/0	Not Specified	MGI:2683315
cn8	Cdc73^tm1Btt/Cdc73^+ Tg(PTH-cre)4167Slib/0	Not Specified	MGI:5925396

Genotype
MGI:3796551

cn1

• 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

Genotype
MGI:3796552

cn2

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

growth/size/body

decreased body weight ( J:116986 )

• reduced at P9 compared to controls

homeostasis/metabolism

increased circulating parathyroid hormone level ( J:116986 )

• levels are increased compared to controls at P9

abnormal circulating calcium level ( J:116986 )

• increased relative to controls

abnormal urine calcium level ( J:116986 )

• increased relative to controls at P9

renal/urinary system

abnormal urine calcium level ( J:116986 )

• increased relative to controls at P9

Genotype
MGI:3796553

cn3

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

growth/size/body

decreased body weight ( J:116986 )

• reduced at P9 compared to controls

homeostasis/metabolism

increased circulating parathyroid hormone level ( J:116986 )

• levels are increased compared to controls

abnormal circulating calcium level ( J:116986 )

• increased relative to controls at P9

abnormal urine calcium level ( J:116986 )

• increased relative to controls

renal/urinary system

abnormal urine calcium level ( J:116986 )

• increased relative to controls

Genotype
MGI:5306890

cn4

• Allelic Composition: Casr^tm1Wch/Casr⁺; Tg(PTH-cre)4167Slib/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * FVB

skeleton

skeleton phenotype ( J:180651 )

N • mice exhibit normal trabecular bone connectivity density and trabeculae spacing

decreased bone mineral density ( J:180651 )

• mild by 6 months of age

decreased compact bone volume ( J:180651 )

decreased compact bone thickness ( J:180651 )

decreased bone trabecula number ( J:180651 )

decreased trabecular bone thickness ( J:180651 )

homeostasis/metabolism

increased circulating parathyroid hormone level ( J:180651 )

increased circulating calcium level ( J:180651 )

increased urine calcium level ( J:180651 )

renal/urinary system

increased urine calcium level ( J:180651 )

Genotype
MGI:5306889

cn5

• Allelic Composition: Casr^tm1Wch/Casr^tm1Wch; Tg(PTH-cre)4167Slib/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * FVB

mortality/aging

postnatal lethality, complete penetrance ( J:180651 )

• mice die within 2 weeks of birth

skeleton

abnormal skeleton morphology ( J:180651 )

• small, fragile, and undermineralized skeleton

decreased bone mineral content ( J:180651 )

• in trabecular and cortical bones

decreased bone mineral density ( J:180651 )

abnormal skeleton development ( J:180651 )

• retarded

decreased bone mineralization ( J:180651 )

• undermineralized skeleton

fragile skeleton ( J:180651 )

homeostasis/metabolism

increased circulating parathyroid hormone level ( J:180651 )

increased circulating calcium level ( J:180651 )

increased urine calcium level ( J:180651 )

renal/urinary system

increased urine calcium level ( J:180651 )

growth/size/body

decreased body weight ( J:180651 )

postnatal growth retardation ( J:180651 )

• growth is severely blunted

Genotype
MGI:5925397

cn6

• Allelic Composition: Cdc73^tm1Btt/Cdc73^tm1Btt; Tg(PTH-cre)4167Slib/0
• Genetic Background: Not Specified

endocrine/exocrine glands

increased parathyroid gland tumor incidence ( J:243366 )

• some mice exhibit parathyroid tumors over 18 months of age

• parathyroids with tumors show glandular enlargement, nuclear pleomorphism and septation

• parathyroid tumors have higher daily proliferation rates compared to wild-type parathyroids

increased parathyroid adenoma incidence ( J:243366 )

• 75% of parathyroid tumors sow features of APAs including increased collagen deposition in the septa, reduced nuclear expression of parfibromin and increased expression of galectin-3

homeostasis/metabolism

increased circulating calcium level ( J:243366 )

• mice over 20 months of age exhibit elevated mean serum calcium concentrations

• however, levels of serum albumin, creatinine, and phosphate concentrations are normal

neoplasm

increased parathyroid gland tumor incidence ( J:243366 )

• some mice exhibit parathyroid tumors over 18 months of age

• parathyroids with tumors show glandular enlargement, nuclear pleomorphism and septation

• parathyroid tumors have higher daily proliferation rates compared to wild-type parathyroids

increased parathyroid adenoma incidence ( J:243366 )

• 75% of parathyroid tumors sow features of APAs including increased collagen deposition in the septa, reduced nuclear expression of parfibromin and increased expression of galectin-3

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hyperparathyroidism		DOID:13543	OMIM:145000 OMIM:145001 OMIM:610071	J:243366

Genotype
MGI:2683315

cn7

• Allelic Composition: Men1^tm1.2Ctre/Men1^tm1.2Ctre; Tg(PTH-cre)4167Slib/0
• Genetic Background: Not Specified

endocrine/exocrine glands

enlarged parathyroid gland ( J:86642 )

• enlarged parathyroid glands

• increased number of densely packed and disorganized follicular cells

homeostasis/metabolism

abnormal blood homeostasis ( J:86642 )

increased circulating calcium level ( J:86642 )

• significant increase in serum calcium level relative to littermates by 9 months of age

• no difference in serum glucose or creatine levels relative to littermates

Genotype
MGI:5925396

cn8

• Allelic Composition: Cdc73^tm1Btt/Cdc73⁺; Tg(PTH-cre)4167Slib/0
• Genetic Background: Not Specified

endocrine/exocrine glands

increased parathyroid gland tumor incidence ( J:243366 )

• some mice exhibit parathyroid tumors over 18 months of age

• parathyroids with tumors show glandular enlargement, nuclear pleomorphism and septation

• parathyroid tumors have higher daily proliferation rates compared to wild-type parathyroids

increased parathyroid adenoma incidence ( J:243366 )

• 75% of parathyroid tumors show features of atypical parathyroid adenomas including increased collagen deposition in the septa, reduced nuclear expression of parfibromin and increased expression of galectin-3

homeostasis/metabolism

increased circulating calcium level ( J:243366 )

• mice over 20 months of age exhibit elevated mean serum calcium concentrations

• however, levels of serum albumin, creatinine, and phosphate concentrations are normal

neoplasm

increased parathyroid gland tumor incidence ( J:243366 )

• some mice exhibit parathyroid tumors over 18 months of age

• parathyroids with tumors show glandular enlargement, nuclear pleomorphism and septation

• parathyroid tumors have higher daily proliferation rates compared to wild-type parathyroids

increased parathyroid adenoma incidence ( J:243366 )

• 75% of parathyroid tumors show features of atypical parathyroid adenomas including increased collagen deposition in the septa, reduced nuclear expression of parfibromin and increased expression of galectin-3

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hyperparathyroidism		DOID:13543	OMIM:145000 OMIM:145001 OMIM:610071	J:243366