About   Help   FAQ
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





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
11/12/2024
MGI 6.24
The Jackson Laboratory