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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ptntm1Tmu
targeted mutation 1, Takashi Muramatsu
MGI:3053747
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ptntm1Tmu/Ptntm1Tmu B6.Cg-Ptntm1Tmu MGI:3718112
cx2
Mdktm1Tmu/Mdktm1Tmu
Ptntm1Tmu/Ptntm1Tmu
B6.129S2-Mdktm1Tmu Ptntm1Tmu MGI:6849975
cx3
Mdktm1Tmu/Mdktm1Tmu
Ptntm1Tmu/Ptntm1Tmu
involves: 129S2/SvPas * C57BL/6J MGI:3718113


Genotype
MGI:3718112
hm1
Allelic
Composition
Ptntm1Tmu/Ptntm1Tmu
Genetic
Background
B6.Cg-Ptntm1Tmu
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptntm1Tmu mutation (1 available); any Ptn mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• mice experience low to moderate levels of auditory deficits

homeostasis/metabolism
• following partial hepatectomy (PH), amino-transferase levels are decreased

immune system
• following partial hepatectomy (PH), macrophage infiltration into the liver is decreased
• following partial hepatectomy (PH), neutrophil infiltration into the liver is decreased

liver/biliary system
• one day following partial hepatectomy (PH)

hematopoietic system
• following partial hepatectomy (PH), macrophage infiltration into the liver is decreased
• following partial hepatectomy (PH), neutrophil infiltration into the liver is decreased

cellular
• following partial hepatectomy (PH), macrophage infiltration into the liver is decreased




Genotype
MGI:6849975
cx2
Allelic
Composition
Mdktm1Tmu/Mdktm1Tmu
Ptntm1Tmu/Ptntm1Tmu
Genetic
Background
B6.129S2-Mdktm1Tmu Ptntm1Tmu
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mdktm1Tmu mutation (2 available); any Mdk mutation (23 available)
Ptntm1Tmu mutation (1 available); any Ptn mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• birth rate of double mutant mice is only one third of the expected rate; following mating of double heterozygotes, only 2.1% are recovered at 1 week after birth versus expected 6.25%

growth/size/body
• at 3-4 weeks of age, body weight is about half of that in wild-type controls
• adult mice weigh 75-80% of age-matched wild-type controls
• however, no significant differences in body weight are observed 1 week after birth
• both sexes grow much more slowly than wild-type controls from 2 to 4 weeks after birth and the difference in weight gain is maintained to adulthood
• high-calorie diet feeding fails to result in a greater weight gain than ordinary feeding, unlike in wild-type controls

behavior/neurological
• at 1 month of age, spontaneous locomotive activity is 50-60% of that in wild-type controls; both male and female mice are affected (J:123392)
• at 3 months of age, spontaneous locomotive activity is still ~80% of that in wild-type males (J:123392)
• however, spontaneous locomotive activity is normal in females at 3 months (J:123392)

digestive/alimentary system
• all organs of the digestive tract are smaller than those in wild-type controls
• mice exhibit poor growth of the mucosal epithelium in the descending colon, but not in other organs of the digestive tract
• colon shows poor growth, esp. in the mucosal layer of the descending colon

reproductive system
N
• male mice are fertile with normal reproductive capabilities relative to wild-type controls
• at 4 weeks of age, the number of mature follicles with a single, fused antrum is lower than that in wild-type controls
• however, the total number of follicles (double layered primary follicles and follicles at more advanced stages of maturation) is normal
• females exhibit poor maturation of ovarian follicles
• at 4 weeks of age, ovary size is about 60% of that in wild-type controls
• at 10 months of age, the vaginal epithelium is thinner and shows inward projections, indicating vaginal epithelium atrophy
• at 2 months of age, vaginal epithelium thickness is normal, but the multilayered structure of the epithelium is disordered, the nuclear size of the epithelial cells is uneven and condensed chromatins are frequently observed
• at 10 months of age, 8 of 19 (42%) of mice exhibit vaginal malformations at the opening, unlike single homozygotes
• many mice show narrow vaginas that are frequently divided into two parts
• in females with vaginal malformations, the vaginal lumen is frequently divided into two parts by a wall
• at 10 months of age, the vaginal epithelium is thinner and shows inward projections, indicating vaginal epithelium atrophy
• following administration of PMS-hCG to 8-10-week-old mice, the number of ovulated ova is significantly lower than that in similarly treated wild-type controls
• however, the % of ova that reach the 2-cell stage after in vitro fertilization is normal
• diestrus period is longer than in wild-type controls; diestrus to proestrus occupies about 4 days in the 6-day estrous cycle
• estrus period lasts only for 1 day in the 6-day estrous cycle versus 2-3 days in wild-type controls
• proestrus period is longer than in wild-type controls; diestrus to proestrus occupies about 4 days in the 6-day estrous cycle
• 19 of 24 female mice (79%) are sterile
• all females with an abnormal vagina are sterile, without any sign of a plug; on the other hand, 7 of 11 females with a normal vagina are sterile
• superovulation fails to significantly increase the fertility of female mice

endocrine/exocrine glands
• at 4 weeks of age, the number of mature follicles with a single, fused antrum is lower than that in wild-type controls
• however, the total number of follicles (double layered primary follicles and follicles at more advanced stages of maturation) is normal
• females exhibit poor maturation of ovarian follicles
• at 4 weeks of age, ovary size is about 60% of that in wild-type controls

hearing/vestibular/ear
• mice exhibit severe auditory deficits




Genotype
MGI:3718113
cx3
Allelic
Composition
Mdktm1Tmu/Mdktm1Tmu
Ptntm1Tmu/Ptntm1Tmu
Genetic
Background
involves: 129S2/SvPas * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mdktm1Tmu mutation (2 available); any Mdk mutation (23 available)
Ptntm1Tmu mutation (1 available); any Ptn mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system

hearing/vestibular/ear
• mice have a severe level of auditory defect
• mice do not respond to low frequency (8-12kHz) sounds and some mice respond to high frequency (16-20kHz) sounds
• however, no defects are observed in the cochlea





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory