Phenotypes associated with this allele

• Allele Symbol: Htatip2^tm1Hx
• Allele Name: targeted mutation 1, Hua Xiao
• Allele ID: MGI:3026855
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Htatip2^tm1Hx/Htatip2^tm1Hx	involves: 129P2/OlaHsd * C57BL/6J	MGI:3026859
ht2	Htatip2^tm1Hx/Htatip2^+	involves: 129P2/OlaHsd * C57BL/6J	MGI:3026867

Genotype
MGI:3026859

hm1

• Allelic Composition: Htatip2^tm1Hx/Htatip2^tm1Hx
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

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

neoplasm

increased tumor incidence ( J:87066 )

• at 18-20 months of age, 3 of 10 female and 1 of 3 male homozygotes display tumors compared with none of the 13 female and 7 male wild-type littermates examined

increased uterus leiomyoma incidence ( J:87066 )

♀ • 1 of 3 female homozygotes displayed a uterus leiomyoma

increased malignant tumor incidence ( J:87066 )

increased carcinoma incidence ( J:87066 )

• at 18-20 months of age, homozygotes are prone to carcinoma development

increased duodenum adenocarcinoma incidence ( J:87066 )

• 1 of 3 female homozygotes displayed a duodenum adenocarcinoma

increased hepatocellular carcinoma incidence ( J:87066 )

• 1 of 3 female homozygotes displayed a hepatocellular carcinoma in the liver

increased sarcoma incidence ( J:87066 )

• 1 of 3 male homozygotes displayed an undifferentiated sarcoma that metastasized to the retroperitoneum, liver, spleen, pancreas

cellular

abnormal cell physiology ( J:87066 )

• homozygous mutant MEFs show increased susceptibility to transformation by the SV40 large T antigen, developing more colony foci than immortalized wild-type MEFs in soft agars

increased fibroblast proliferation ( J:87066 )

• T antigen-immortalized homozygous mutant MEFs grow much faster and in a more disorganized fashion relative to immortalized wild-type MEFs

endocrine/exocrine glands

abnormal mammary gland morphology ( J:87066 )

♀ • homozygotes exhibit histological abnormalities in the mammary glands before 12 months of age (data not shown)

♀ • however, no gross alterations or developmental defects are observed in other organs

integument

abnormal mammary gland morphology ( J:87066 )

♀ • homozygotes exhibit histological abnormalities in the mammary glands before 12 months of age (data not shown)

♀ • however, no gross alterations or developmental defects are observed in other organs

reproductive system

increased uterus leiomyoma incidence ( J:87066 )

♀ • 1 of 3 female homozygotes displayed a uterus leiomyoma

liver/biliary system

increased hepatocellular carcinoma incidence ( J:87066 )

• 1 of 3 female homozygotes displayed a hepatocellular carcinoma in the liver

digestive/alimentary system

increased duodenum adenocarcinoma incidence ( J:87066 )

• 1 of 3 female homozygotes displayed a duodenum adenocarcinoma

muscle

increased uterus leiomyoma incidence ( J:87066 )

♀ • 1 of 3 female homozygotes displayed a uterus leiomyoma

Genotype
MGI:3026867

ht2

• Allelic Composition: Htatip2^tm1Hx/Htatip2⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

neoplasm

increased metastatic potential ( J:87066 )

increased tumor incidence ( J:87066 )

• at 18-20 months of age, 6 of 8 female and 1 of 6 male heterozygotes display tumors compared with none of the 13 female and 7 male wild-type littermates

increased ovary tumor incidence ( J:87066 )

♀ • 1 of 8 female heterozygotes developed two tumors, a lipoid cell tumor at the right ovary and a neuroblastoma that arose at the right adrenal gland, with multiple metastases to the spleen, thymus, and salivary glands; metastases were also observed in the neck, mesenterium, and mediastinum

increased malignant tumor incidence ( J:87066 )

increased neuroblastoma incidence ( J:87066 )

• 1 of 8 female heterozygotes developed two tumors, a lipoid cell tumor at the right ovary and a neuroblastoma that arose at the right adrenal gland, with multiple metastases to the spleen, thymus, and salivary glands; metastases were also observed in the neck, mesenterium, and mediastinum

increased carcinoma incidence ( J:87066 )

• at 18-20 months of age, heterozygotes are prone to carcinoma development

increased hepatocellular carcinoma incidence ( J:87066 )

• 2 of 8 female heterozygotes displayed a hepatocellular carcinoma in the liver

increased urinary bladder transitional cell carcinoma incidence ( J:87066 )

• 1 of 8 female heterozygotes developed a transitional cell carcinoma (grade III) in the urinary bladder, and exhibited metastases along the epithelium that involved the ureters and renal pelvis

increased hemangiosarcoma incidence ( J:87066 )

• 1 of 6 male heterozygotes developed a hemangiosarcoma that metastasized to the retroperitoneum, liver, spleen, and subcutis

increased thymoma incidence ( J:87066 )

♀ • 1 of 8 female heterozygotes displayed a thymoma

cellular

abnormal cell physiology ( J:87066 )

• heterozygous mutant MEFs show increased susceptibility to transformation by the SV40 large T antigen, developing more colony foci than immortalized wild-type MEFs in soft agars

increased fibroblast proliferation ( J:87066 )

• T antigen-immortalized heterozygous mutant MEFs grow much faster and in a more disorganized fashion relative to immortalized wild-type MEFs

nervous system

increased neuroblastoma incidence ( J:87066 )

• 1 of 8 female heterozygotes developed two tumors, a lipoid cell tumor at the right ovary and a neuroblastoma that arose at the right adrenal gland, with multiple metastases to the spleen, thymus, and salivary glands; metastases were also observed in the neck, mesenterium, and mediastinum

liver/biliary system

increased hepatocellular carcinoma incidence ( J:87066 )

• 2 of 8 female heterozygotes displayed a hepatocellular carcinoma in the liver

reproductive system

increased ovary tumor incidence ( J:87066 )

♀ • 1 of 8 female heterozygotes developed two tumors, a lipoid cell tumor at the right ovary and a neuroblastoma that arose at the right adrenal gland, with multiple metastases to the spleen, thymus, and salivary glands; metastases were also observed in the neck, mesenterium, and mediastinum

renal/urinary system

increased urinary bladder transitional cell carcinoma incidence ( J:87066 )

• 1 of 8 female heterozygotes developed a transitional cell carcinoma (grade III) in the urinary bladder, and exhibited metastases along the epithelium that involved the ureters and renal pelvis

endocrine/exocrine glands

increased ovary tumor incidence ( J:87066 )

♀ • 1 of 8 female heterozygotes developed two tumors, a lipoid cell tumor at the right ovary and a neuroblastoma that arose at the right adrenal gland, with multiple metastases to the spleen, thymus, and salivary glands; metastases were also observed in the neck, mesenterium, and mediastinum