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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Mrtfatm1Swm
targeted mutation 1, Stephan W Morris
MGI:3665132
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Mrtfatm1Swm/Mrtfatm1Swm involves: 129/Sv * C57BL/6 MGI:3701530


Genotype
MGI:3701530
hm1
Allelic
Composition
Mrtfatm1Swm/Mrtfatm1Swm
Genetic
Background
involves: 129/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mrtfatm1Swm mutation (0 available); any Mrtfa mutation (32 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• only 14.5% of offspring are homozygous, instead of the expected 25%; examination of embryos between E10 and 18.5 reveals cardiac defects first observed at E10 but no time of lethality is provided

cardiovascular system
• at E10.5, ~35% of homozygous embryos display dilated outflow vessels (aortic and pulmonary arteries)
• at E10.5, ~35% of homozygous embryos display dilated cardiac atria
• at E10.5, ~35% of homozygous embryos display dilated cardiac ventricles

cellular
• mitochondria of myoepithelial cells are swollen and lack normal crystal structures
• mitochondria in some mutant muscle fibers are swollen and exhibit degeneration
• mitochondria in some mutant muscle fibers are swollen and exhibit degeneration

homeostasis/metabolism

endocrine/exocrine glands
• at 9 days after parturition, overall abundance of mammary gland tissue is similar, or even increased, in mutants vs wild-type
• at days 9 and 13 postpartum, a progressive loss of epithelial cell components and an increase in adipose tissue is observed
• premature onset of involution-like process precludes sustained lactation beyond the first week after birth
• the mutant alveolar epithelium appears flattened in the initial postpartum period, unlike in wild-type controls
• a progressive loss of epithelial cell components is noted at postpartum days 9 and 13 in mutant mammary glands
• the lumina of mutant mammary alveoli are full of milk and become dilated in the initial postpartum period (postpartum day 5)
• loss of the normal reddish-pink color of mammary gland tissue; a light yellow-tan color is observed at 9 days after parturition
• injection of oxytocin and/or prolactin does not rescue mortality/failure to thrive of litters tended by homozygous females
• all pups nursed by homozygous females die before weaning, regardless of genotype
• an accumulation of milk in the lumina of the alveoli is observed in the postpartum mutant mammary gland due to inefficient let-down
• myoepithelial cells in mutant mammary tissues show dysfunction
• at postpartum days 9 and 13, a marked increase in apoptotic cell death is observed in mutant mammary glands
• however, comparable numbers of apoptotic cells are noted in virgin and 5-day-postpartum mutant and wild-type mammary glands

muscle
• mitochondria in some mutant muscle fibers are swollen and exhibit degeneration

integument
• at 9 days after parturition, overall abundance of mammary gland tissue is similar, or even increased, in mutants vs wild-type
• at days 9 and 13 postpartum, a progressive loss of epithelial cell components and an increase in adipose tissue is observed
• premature onset of involution-like process precludes sustained lactation beyond the first week after birth
• the mutant alveolar epithelium appears flattened in the initial postpartum period, unlike in wild-type controls
• a progressive loss of epithelial cell components is noted at postpartum days 9 and 13 in mutant mammary glands
• the lumina of mutant mammary alveoli are full of milk and become dilated in the initial postpartum period (postpartum day 5)
• loss of the normal reddish-pink color of mammary gland tissue; a light yellow-tan color is observed at 9 days after parturition
• injection of oxytocin and/or prolactin does not rescue mortality/failure to thrive of litters tended by homozygous females
• all pups nursed by homozygous females die before weaning, regardless of genotype
• an accumulation of milk in the lumina of the alveoli is observed in the postpartum mutant mammary gland due to inefficient let-down
• myoepithelial cells in mutant mammary tissues show dysfunction
• at postpartum days 9 and 13, a marked increase in apoptotic cell death is observed in mutant mammary glands
• however, comparable numbers of apoptotic cells are noted in virgin and 5-day-postpartum mutant and wild-type mammary glands

behavior/neurological
• an accumulation of milk in the lumina of the alveoli is observed in the postpartum mutant mammary gland due to inefficient let-down





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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory