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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Akr1a1Gt(OST222400)Lex
gene trap OST222400, Lexicon Genetics
MGI:4239556
Summary 2 genotypes


Genotype
MGI:5008182
hm1
Allelic
Composition
Akr1a1Gt(OST222400)Lex/Akr1a1Gt(OST222400)Lex
Genetic
Background
B6.129S5-Akr1a1Gt(OST222400)Lex
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Akr1a1Gt(OST222400)Lex mutation (0 available); any Akr1a1 mutation (30 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Severe loss of bone and fractures in the long bones of Akr1a1Gt(OST222400)Lex/Akr1a1Gt(OST222400)Lex mice

reproductive system
• female mice fail to successfully carry a litter unlike wild-type mice
• however, female mice fed regular chow with 1% ascorbate successfully breed and wean normal litters

skeleton
• cell masses of developmentally arrested immature osteoblasts accumulate in pregnant and unmated female mice, castrated male mice, and mice fed regular chow lacking ascorbate unlike in wild-type mice
• however, diets containing ascorbate prevents proliferative response
• castrated mice fail to exhibit an increase in osteoblast parameters unlike in wild-type mice
• however, diets containing ascorbate and pycnogenol or resveratrol result in elevated osteoblast parameters comparable to those observed in castrated wild-type mice
• mice exhibit a disappearance of trabecular bone from the nasal turbinates, which is replaced by proliferating cell masses, unlike wild-type mice
• however, diets with ascorbate preserves nasal turbinate organization
• castrated mice exhibit increased osteoclast parameters compared with wild-type mice
• however, diets containing ascorbate and pycnogenol result in elevated osteoblast parameters comparable to those observed in castrated wild-type mice
• castrated mice exhibit increased osteoclast parameters compared with wild-type mice
• however, diets containing ascorbate and pycnogenol result in elevated osteoblast parameters comparable to those observed in castrated wild-type mice
• castrated male mice exhibit a greater loss of bone compared with wild-type mice
• however, diets containing ascorbate, pyncognerol, or resveratrol restores trabeculae thickness to levels observed in castrated wild-type mice
• in pregnant female mice
• however, female mice fed regular chow with 1% ascorbate prevents bone changes
• castrated mice fail to exhibit an increase in osteoblast parameters unlike in wild-type mice
• however, diets ascorbate and pycnogenol or resveratrol result in elevated osteoblast parameters comparable to those observed in castrated wild-type mice
• pregnant female mice exhibit severe loss of trabecular bone at the growth plates with fractures and callus formation unlike in wild-type mice
• unmated female mice exhibit proliferation of dysplastic mesenchymal cell masses in the long bones, vertebrae, and nasal turbinates compared with wild-type mice
• castrated male mice exhibit resorption of trabecular bones and dysplastic cell masses compared with wild-type mice
• however, diets containing ascorbate preserves normal bone organization
• in castrated mice
• however, diets containing ascorbate, pyncognerol, or resveratrol restores trabeculae thickness to levels observed in castrated wild-type mice
• in castrated mice
• however, diets containing ascorbate, pyncognerol, or resveratrol restores trabeculae thickness to levels observed in castrated wild-type mice
• pregnant female mice exhibit severe osteoporosis compared with wild-type mice
• mice exhibit mild age-related osteroperosis, preferentially affecting female mice, compared with wild-type mice
• however, diets containing ascorbate prevents abnormal bone loss
• in pregnant female mice
• however, female mice fed regular chow with 1% ascorbate prevents bone changes

homeostasis/metabolism
• male mice exhibit a 3.5-fold increase in urinary glucuronate excretion compared with wild-type mice
• male mice exhibit a decrease in liver and kidney ascorbate levels compared with wild-type mice

renal/urinary system
• male mice exhibit a 3.5-fold increase in urinary glucuronate excretion compared with wild-type mice

respiratory system
• mice exhibit a disappearance of trabecular bone from the nasal turbinates, which is replaced by proliferating cell masses, unlike wild-type mice
• however, diets with ascorbate preserves nasal turbinate organization

craniofacial
• mice exhibit a disappearance of trabecular bone from the nasal turbinates, which is replaced by proliferating cell masses, unlike wild-type mice
• however, diets with ascorbate preserves nasal turbinate organization

hematopoietic system
• castrated mice exhibit increased osteoclast parameters compared with wild-type mice
• however, diets containing ascorbate and pycnogenol result in elevated osteoblast parameters comparable to those observed in castrated wild-type mice
• castrated mice exhibit increased osteoclast parameters compared with wild-type mice
• however, diets containing ascorbate and pycnogenol result in elevated osteoblast parameters comparable to those observed in castrated wild-type mice

immune system
• castrated mice exhibit increased osteoclast parameters compared with wild-type mice
• however, diets containing ascorbate and pycnogenol result in elevated osteoblast parameters comparable to those observed in castrated wild-type mice
• castrated mice exhibit increased osteoclast parameters compared with wild-type mice
• however, diets containing ascorbate and pycnogenol result in elevated osteoblast parameters comparable to those observed in castrated wild-type mice

cellular
• cell masses of developmentally arrested immature osteoblasts accumulate in pregnant and unmated female mice, castrated male mice, and mice fed regular chow lacking ascorbate unlike in wild-type mice
• however, diets containing ascorbate prevents proliferative response
• castrated mice fail to exhibit an increase in osteoblast parameters unlike in wild-type mice
• however, diets containing ascorbate and pycnogenol or resveratrol result in elevated osteoblast parameters comparable to those observed in castrated wild-type mice

growth/size/body
• mice exhibit a disappearance of trabecular bone from the nasal turbinates, which is replaced by proliferating cell masses, unlike wild-type mice
• however, diets with ascorbate preserves nasal turbinate organization




Genotype
MGI:5008183
cx2
Allelic
Composition
Akr1a1Gt(OST222400)Lex/Akr1a1Gt(OST222400)Lex
Akr1b1tm1.1Kgab/Akr1b1tm1.1Kgab
Genetic
Background
B6.Cg-Akr1a1Gt(OST222400)Lex Akr1b1tm1.1Kgab
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Akr1a1Gt(OST222400)Lex mutation (0 available); any Akr1a1 mutation (30 available)
Akr1b1tm1.1Kgab mutation (0 available); any Akr1b1 mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

"Rachitic rosary" phenotype of Gulotm1Mae/Gulotm1Mae and Akr1b1tm1.1Kgab/Akr1b1tm1.1Kgab Akr1a1Gt(OST222400)Lex/Akr1a1Gt(OST222400)Lex bones

mortality/aging
• mice die at 8 to 10 weeks of age

skeleton
• newborn mice exhibit rapid onset of scurvy with ball-like swellings at the costochondral junction of the ribs resulting from hemorrhage and callus formation due to profound ascorbate deficiency





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last database update
07/05/2024
MGI 6.24
The Jackson Laboratory