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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Skiltm2Spw
targeted mutation 2, Sonia Pearson-White
MGI:2670012
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Skiltm2Spw/Skiltm2Spw either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) MGI:2670937
hm2
Skiltm2Spw/Skiltm2Spw involves: 129S1/Sv * 129X1/SvJ MGI:5810083


Genotype
MGI:2670937
hm1
Allelic
Composition
Skiltm2Spw/Skiltm2Spw
Genetic
Background
either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Skiltm2Spw mutation (1 available); any Skil mutation (39 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
neoplasm
N
• no significant increase in the incidence of somatic tumors up to 2 years of age

immune system
N
• T-cell subpopulations from thymus and spleen unchanged from wild-type
• reduced T-cell activation in response to receptor stimulation
• proliferation was normal when stimulation bypassed early steps in activation
• IL-2 reverses proliferation defects
• effect probably due in part to reduced antagonism of TGF-beta signaling

hematopoietic system
• reduced T-cell activation in response to receptor stimulation
• proliferation was normal when stimulation bypassed early steps in activation
• IL-2 reverses proliferation defects
• effect probably due in part to reduced antagonism of TGF-beta signaling

cellular
• reduced T-cell activation in response to receptor stimulation
• proliferation was normal when stimulation bypassed early steps in activation
• IL-2 reverses proliferation defects
• effect probably due in part to reduced antagonism of TGF-beta signaling




Genotype
MGI:5810083
hm2
Allelic
Composition
Skiltm2Spw/Skiltm2Spw
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Skiltm2Spw mutation (1 available); any Skil mutation (39 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
endocrine/exocrine glands
• females show impaired mammary gland structural differentiation, secretory activation, tight junction formation and milk production at the onset of lactation
• females show impaired mammary gland structural and functional differentiation at day 18.5 of pregnancy
• mammary glands show a markedly reduced epithelial content at both day 18.5 of pregnancy and day 0.5 of lactation
• primary mammary epithelial cells (MECs) fail to differentiate properly in 3D culture and show early growth arrest, unlike wild-type MECs; acini are much smaller and show abnormal morphology and disrupted basal polarity while the number of cells per acinus is significantly lower than that in wild-type acini at days 3 and 5 of 3D culture
• large cytoplasmic lipid droplets are present in the luminal epithelial layer at day 0.5 and day 1 of lactation, suggesting that secretory activation fails to occur
• mammary glands exhibit significantly fewer alveoli at both day 18.5 of pregnancy and day 0.5 of lactation
• alveoli are small and poorly differentiated, with small lumens containing very few milk droplets at day 18.5 of pregnancy
• all secretory alveolar cells show loss or mislocalization of tight junctions at day 0.5 and day 1 of lactation, as shown by ZO-1 (zonula occludens 1) staining, unlike wild-type cells which show intense ZO-1 apical staining
• however, no differences are detected in cadherin junction structure, as shown by the normal level and basal localization of E-cadherin
• at day 18.5 of pregnancy, alveolar cells exhibit a much lower rate of proliferation than that observed in wild-type cells, as shown by Pcna staining
• however, no differences in apoptosis are detected at day 18.5 of pregnancy by TUNEL staining
• alveoli exhibit small lumens containing very few milk droplets at day 18.5 of pregnancy
• expression of beta-casein is reduced at late pregnancy
• whey acidic protein (Wap) mRNA levels are reduced by at least a 90% at early lactation
• no pups derived from mutant females survive beyond 3 days after birth following the first pregnancy, and newborn pups contain very little gastric milk
• however, mutant females are able to overcome the lactation defects during their second pregnancies and nurse their pups

reproductive system
• females show impaired mammary gland structural and functional differentiation at day 18.5 of pregnancy

integument
• females show impaired mammary gland structural differentiation, secretory activation, tight junction formation and milk production at the onset of lactation
• females show impaired mammary gland structural and functional differentiation at day 18.5 of pregnancy
• mammary glands show a markedly reduced epithelial content at both day 18.5 of pregnancy and day 0.5 of lactation
• primary mammary epithelial cells (MECs) fail to differentiate properly in 3D culture and show early growth arrest, unlike wild-type MECs; acini are much smaller and show abnormal morphology and disrupted basal polarity while the number of cells per acinus is significantly lower than that in wild-type acini at days 3 and 5 of 3D culture
• large cytoplasmic lipid droplets are present in the luminal epithelial layer at day 0.5 and day 1 of lactation, suggesting that secretory activation fails to occur
• mammary glands exhibit significantly fewer alveoli at both day 18.5 of pregnancy and day 0.5 of lactation
• alveoli are small and poorly differentiated, with small lumens containing very few milk droplets at day 18.5 of pregnancy
• all secretory alveolar cells show loss or mislocalization of tight junctions at day 0.5 and day 1 of lactation, as shown by ZO-1 (zonula occludens 1) staining, unlike wild-type cells which show intense ZO-1 apical staining
• however, no differences are detected in cadherin junction structure, as shown by the normal level and basal localization of E-cadherin
• at day 18.5 of pregnancy, alveolar cells exhibit a much lower rate of proliferation than that observed in wild-type cells, as shown by Pcna staining
• however, no differences in apoptosis are detected at day 18.5 of pregnancy by TUNEL staining
• alveoli exhibit small lumens containing very few milk droplets at day 18.5 of pregnancy
• expression of beta-casein is reduced at late pregnancy
• whey acidic protein (Wap) mRNA levels are reduced by at least a 90% at early lactation
• no pups derived from mutant females survive beyond 3 days after birth following the first pregnancy, and newborn pups contain very little gastric milk
• however, mutant females are able to overcome the lactation defects during their second pregnancies and nurse their pups





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