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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Csn1s1tm1Afk
targeted mutation 1, Andreas F Kolb
MGI:5285947
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Csn1s1tm1Afk/Csn1s1tm1Afk involves: 129 * C57BL/6 MGI:5285948
ht2
Csn1s1tm1Afk/Csn1s1+ involves: 129 * C57BL/6 MGI:5285949


Genotype
MGI:5285948
hm1
Allelic
Composition
Csn1s1tm1Afk/Csn1s1tm1Afk
Genetic
Background
involves: 129 * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Csn1s1tm1Afk mutation (0 available); any Csn1s1 mutation (31 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
endocrine/exocrine glands
• some characteristic protein bands are absent and mass spectrometry identified several normally ER resident proteins in the milk
• absence of alpha casein protein and reduction in the amount of beta and gamma casein in the milk
• concentration of calcium is reduced by about 90% compared to wild-type controls
• concentration of phosphate is reduced by about 90% compared to wild-type controls
• overall amount of milk secreted is reduced
• pups nursed by homozygous dams appear emaciated by 6 days of age and show growth restriction

integument
• some characteristic protein bands are absent and mass spectrometry identified several normally ER resident proteins in the milk
• absence of alpha casein protein and reduction in the amount of beta and gamma casein in the milk
• concentration of calcium is reduced by about 90% compared to wild-type controls
• concentration of phosphate is reduced by about 90% compared to wild-type controls
• overall amount of milk secreted is reduced
• pups nursed by homozygous dams appear emaciated by 6 days of age and show growth restriction

homeostasis/metabolism
• concentration of calcium is reduced by about 90% compared to wild-type controls
• concentration of phosphate is reduced by about 90% compared to wild-type controls




Genotype
MGI:5285949
ht2
Allelic
Composition
Csn1s1tm1Afk/Csn1s1+
Genetic
Background
involves: 129 * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Csn1s1tm1Afk mutation (0 available); any Csn1s1 mutation (31 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
endocrine/exocrine glands
• about a 50% reduction in the level of alpha casein protein

integument
• about a 50% reduction in the level of alpha casein protein





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory