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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Xdhtm1Mrc
targeted mutation 1, Mario R Capecchi
MGI:2448161
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Xdhtm1Mrc/Xdhtm1Mrc involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:2653520
ht2
Xdhtm1Mrc/Xdh+ involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:2653522


Genotype
MGI:2653520
hm1
Allelic
Composition
Xdhtm1Mrc/Xdhtm1Mrc
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Xdhtm1Mrc mutation (0 available); any Xdh mutation (101 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozygotes fail to live beyond 6 weeks of age

growth/size/body
• homozygotes are runted




Genotype
MGI:2653522
ht2
Allelic
Composition
Xdhtm1Mrc/Xdh+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Xdhtm1Mrc mutation (0 available); any Xdh mutation (101 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
endocrine/exocrine glands
• heterozygotes display premature involution of the mammary gland at lactation day 11
• at lactation day 11, the heterozygous mammary epithelium shows severe cell shedding and tissue fragmentation with loss of epithelial tissue volume and premature tissue involution
• by lactation day 13, an overall collapse of mammary epithelial tissue is observed
• only milk secreting alveoli are affected, while ducts, which transport secretions to the exterior of the gland, appear normal
• mammary tissue destruction is independent of a defect in lactogenic hormones and correlates with the time course of pup starvation
• heterozygotes are unable to maintain lactation due to failure to secrete fat droplets into milk; as a result, their pups die of starvation within 2 weeks postpartum
• heterozygotes show defective enveloping of milk fat droplets with the apical mammary epithelial membrane, resulting in impaired secretion of droplets into milk

growth/size/body
• pups nursed by heterozygous mothers begin to appear visibly malnourished by P6
• by P12, pups are emaciated, and by P13, remaining pups display less than 50% of wild-type body weight
• pups from heterozygous females can be raised normally by wild-type mothers

adipose tissue
• pups born to heterozygous females are devoid of adipose tissue e.g. brown fat and mammary fat pads

muscle
• pups born to heterozygous females show reduced skeletal muscle volume, consistent with starvation

integument
• heterozygotes display premature involution of the mammary gland at lactation day 11
• at lactation day 11, the heterozygous mammary epithelium shows severe cell shedding and tissue fragmentation with loss of epithelial tissue volume and premature tissue involution
• by lactation day 13, an overall collapse of mammary epithelial tissue is observed
• only milk secreting alveoli are affected, while ducts, which transport secretions to the exterior of the gland, appear normal
• mammary tissue destruction is independent of a defect in lactogenic hormones and correlates with the time course of pup starvation
• heterozygotes are unable to maintain lactation due to failure to secrete fat droplets into milk; as a result, their pups die of starvation within 2 weeks postpartum
• heterozygotes show defective enveloping of milk fat droplets with the apical mammary epithelial membrane, resulting in impaired secretion of droplets into milk





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last database update
11/19/2024
MGI 6.24
The Jackson Laboratory