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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pthlhtm2Ack
targeted mutation 2, Andrew C Karaplis
MGI:3826465
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Pthlhtm2Ack/Pthlhtm2Ack involves: 129S2/SvPas * C57BL/6 MGI:3826506


Genotype
MGI:3826506
hm1
Allelic
Composition
Pthlhtm2Ack/Pthlhtm2Ack
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pthlhtm2Ack mutation (0 available); any Pthlh mutation (19 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Pthlhtm2Ack/Pthlhtm2Ack mice show growth retardation, premature aging, osteopenia, kyphosis, muscle atrophy, decrease in adipose tissue, swelling of the brain, and thin skin

mortality/aging
• mice die by week 2 to 3 of age
• at 2 weeks of age, mice exhibit signs of premature aging such as an unstable gait, cachexia, osteopenia with kyphosis and a profound decrease in fat deposition compared to wild-type mice

skeleton
N
• unlike mice homozygous for a null allele, tooth eruption occurs
• narrower than in wild-type mice
• mice exhibit small growth plates with decreased epiphyseal volumes compared to in wild-type mice
• at 2 weeks of age
• at 2 weeks of age
• at 2 weeks, mice exhibit decreases in trabecular and cortical bone volume, and trabecular number and thickness with an increase in trabecular space compared to in wild-type mice
• as determined by decreased bone mineral density
• chondrocyte numbers are decreased due to decreased proliferation compared to in wild-type mice

growth/size/body
N
• unlike mice homozygous for a null allele, mice exhibit normal limb length
• slightly at birth
• at 2 weeks of age
• by P3 mice, fail to grow relative to wild-type mice

cellular
• fed mice exhibit increased autophagy compared to in wild-type mice but not as high as in starved wild-type mice
• apoptosis in the spleen and thymus is increased compared to in wild-type mice
• at E18.5, proliferation of cells in the subventricular zone and hippocampus are decreased compared to in wild-type mice
• at P14, cell proliferation in the bone marrow is decreased compared to in wild-type mice

cardiovascular system
• large blood vessels are atrophic

nervous system

adipose tissue
• at 2 weeks of age, mice exhibit a profound decrease in fat deposition compared to wild-type mice

behavior/neurological
• at 2 weeks of age, mice exhibit unstable gait

homeostasis/metabolism
• fed mice exhibit increased autophagy compared to in wild-type mice but not as high as in starved wild-type mice

hematopoietic system

immune system

integument





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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
04/23/2024
MGI 6.23
The Jackson Laboratory