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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Acvr1btm1.1Gsu
targeted mutation 1.1, Gloria H Su
MGI:5000108
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Acvr1btm1.1Gsu/Acvr1btm1.1Gsu
Tg(KRT14-cre)8Brn/0
involves: 129 * C57BL/6J * FVB MGI:5000109
cn2
Acvr1btm1.1Gsu/Acvr1btm1.1Gsu
Tg(KRT14-cre)8Brn/Tg(KRT14-cre)8Brn
involves: 129 * C57BL/6J * FVB MGI:5000110


Genotype
MGI:5000109
cn1
Allelic
Composition
Acvr1btm1.1Gsu/Acvr1btm1.1Gsu
Tg(KRT14-cre)8Brn/0
Genetic
Background
involves: 129 * C57BL/6J * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acvr1btm1.1Gsu mutation (1 available); any Acvr1b mutation (36 available)
Tg(KRT14-cre)8Brn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• in mice with severe hair loss
• mice with severe hair loss also show incisor abnormalities including absence of a lower incisor and overextending or shortening of one lower incisor

integument
• at P24 and 6 months of age
• increase in the number of sebaceous glands at 5 months of age
• enlarged skin sebaceous glands at P24 and 6 months of age
• all pups born with hair show increased hair loss with age
• completely alopecic at 5 months of age
• about 25% of pups are hairless
• mice with gross alopecia at P5 show hair follicle abnormalities
• the least affected mice show striking defects in hair follicle morphology at P24 (telogen phase) and P32 (anagen phase) but only slight defects at earlier times
• at 5 months of age remaining hair follicles are dilated forming large cysts containing keratinaceous debris
• expression analysis indicates hair differentiation is disrupted when the hair cycle is deregulated
• increase in proliferation in the remaining hair follicles that had not completely disintegrated into cysts at 5 months of age
• in the least affected mice at P17 some follicles are delayed in their entry into catagen phase
• at P32 in the least affected mice the hair cycle appears completely deregulated
• in the least affected mice at P24 hair follicles remain in catagen rather than starting to enter anagen as in controls
• at 5 months of age remaining hair follicles are dilated forming large cysts containing keratinaceous debris
• at 5 months of age the skin has 3-5 more basal layers of epithelial cells compared to the skin of littermate controls
• at 5 months of age
• increase in proliferation in the basal layer of the epidermis at 5 months of age but not from P11 to P32

growth/size/body
• in mice with severe hair loss
• mice with severe hair loss also show incisor abnormalities including absence of a lower incisor and overextending or shortening of one lower incisor
• at 5 months of age remaining hair follicles are dilated forming large cysts containing keratinaceous debris
• stunted growth by P5

craniofacial
• in mice with severe hair loss
• mice with severe hair loss also show incisor abnormalities including absence of a lower incisor and overextending or shortening of one lower incisor

reproductive system
N
• despite cre expression in the mammary gland females are fertile and able to nurse pups

digestive/alimentary system
N
• despite cre expression in the tongue and esophagus no gross abnormalities are detected in these tissues

endocrine/exocrine glands
• at P24 and 6 months of age
• increase in the number of sebaceous glands at 5 months of age
• enlarged skin sebaceous glands at P24 and 6 months of age




Genotype
MGI:5000110
cn2
Allelic
Composition
Acvr1btm1.1Gsu/Acvr1btm1.1Gsu
Tg(KRT14-cre)8Brn/Tg(KRT14-cre)8Brn
Genetic
Background
involves: 129 * C57BL/6J * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acvr1btm1.1Gsu mutation (1 available); any Acvr1b mutation (36 available)
Tg(KRT14-cre)8Brn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
integument
• all pups born with hair show increased hair loss with age
• alopecia is more severe in mice homozygous for the cre transgene compared to mice hemizygous for the transgene

growth/size/body
• stunted growth by P5
• stunting is more severe in mice homozygous for the cre transgene compared to mice hemizygous for the transgene





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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
05/07/2024
MGI 6.23
The Jackson Laboratory