Phenotypes associated with this allele

• Allele Symbol: Cdc73^tm1Btt
• Allele Name: targeted mutation 1, Bin Tean Teh
• Allele ID: MGI:3794030
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Cdc73^tm1Btt/Cdc73^tm1Btt Tg(CAG-cre/Esr1*)5Amc/0	involves: 129S4/SvJae * C57BL/6 * CBA	MGI:3795455
cn2	Cdc73^tm1Btt/Cdc73^+ Tg(PTH-cre)4167Slib/0	Not Specified	MGI:5925396
cn3	Cdc73^tm1Btt/Cdc73^tm1Btt Tg(PTH-cre)4167Slib/0	Not Specified	MGI:5925397

Genotype
MGI:3795455

cn1

• Allelic Composition: Cdc73^tm1Btt/Cdc73^tm1Btt; Tg(CAG-cre/Esr1*)5Amc/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * CBA

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

mortality/aging

premature death ( J:135255 )

• mice die 20 days after administration of tamoxifen

prenatal lethality, complete penetrance ( J:135255 )

• when tamoxifen is administered from E8.5 to E14.5

cellular

increased apoptosis ( J:135255 )

• after treatment of adults with tamoxifen, mice exhibit an increase in apoptotic cells in the salivary glands, tongue, stomach, intestine, liver and kidneys compared to in wild-type mice

increased fibroblast apoptosis ( J:135255 )

• mouse embryonic fibroblast cells treated with tamoxifen exhibit increased apoptosis compared to wild-type cells

decreased cell proliferation ( J:135255 )

• in mouse embryonic fibroblast cells treated with tamoxifen

digestive/alimentary system

abnormal digestive system morphology ( J:135255 )

• after treatment of adults with tamoxifen, some mice develop dilation of the gastrointestinal tract

small salivary gland ( J:135255 )

• after treatment of adults with tamoxifen

small stomach ( J:135255 )

• after treatment of adults with tamoxifen

endocrine/exocrine glands

small salivary gland ( J:135255 )

• after treatment of adults with tamoxifen

small seminal vesicle ( J:135255 )

♂ • after treatment of adults with tamoxifen

small testis ( J:135255 )

♂ • after treatment of adults with tamoxifen

abnormal gland physiology ( J:135255 )

• after treatment of adults with tamoxifen, mice exhibit reduced submandibular and seminal vesicle secretion and a decrease in the number of tubular glands compared to wild-type mice

liver/biliary system

small liver ( J:135255 )

• after treatment of adults with tamoxifen

hepatic necrosis ( J:135255 )

• after treatment of adults with tamoxifen, mice exhibit necrotic cells in the liver and kidney likely due to multiorgan failure

renal/urinary system

small kidney ( J:135255 )

• after treatment of adults with tamoxifen

renal necrosis ( J:135255 )

• after treatment of adults with tamoxifen, mice exhibit necrotic cells in the liver and kidney likely due to multiorgan failure

respiratory system

small lung ( J:135255 )

• after treatment of adults with tamoxifen

decreased pulmonary respiratory rate ( J:135255 )

• after treatment of adults with tamoxifen, breathing is labored

homeostasis/metabolism

ascites ( J:135255 )

• after treatment of adults with tamoxifen, some mice develop ascites

nervous system

abnormal nervous system development ( J:135255 )

• when tamoxifen is administered from E8.5 to E14.5, development of the central nervous system is significantly delayed compared to in wild-type mice

behavior/neurological

abnormal reflex ( J:135255 )

• after treatment of adults with tamoxifen, mice exhibit slow reactions

decreased locomotor activity ( J:135255 )

• after treatment of adults with tamoxifen

muscle

decreased skeletal muscle mass ( J:135255 )

• after treatment of adults with tamoxifen, mice exhibit muscle loss

adipose tissue

decreased subcutaneous adipose tissue amount ( J:135255 )

• after treatment of adults with tamoxifen

decreased abdominal adipose tissue amount ( J:135255 )

• after treatment of adults with tamoxifen

embryo

decreased embryo size ( J:135255 )

• when tamoxifen is administered from E8.5 to E14.5, E10.5 and E12.5 or E12.5 and E14.5, embryos are smaller than normal

reproductive system

small seminal vesicle ( J:135255 )

♂ • after treatment of adults with tamoxifen

small testis ( J:135255 )

♂ • after treatment of adults with tamoxifen

hematopoietic system

small spleen ( J:135255 )

• after treatment of adults with tamoxifen

immune system

small spleen ( J:135255 )

• after treatment of adults with tamoxifen

growth/size/body

decreased embryo size ( J:135255 )

• when tamoxifen is administered from E8.5 to E14.5, E10.5 and E12.5 or E12.5 and E14.5, embryos are smaller than normal

weight loss ( J:135255 )

• after treatment of adults with tamoxifen

cardiovascular system

small heart ( J:135255 )

• after treatment of adults with tamoxifen

integument

decreased subcutaneous adipose tissue amount ( J:135255 )

• after treatment of adults with tamoxifen

Genotype
MGI:5925396

cn2

• 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

Genotype
MGI:5925397

cn3

• 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