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Phenotypes Associated with This Genotype
Genotype
MGI:3583282
Allelic
Composition
Bmpr1btm1Kml/Bmpr1btm1Kml
Genetic
Background
involves: 129S/SvEv * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1btm1Kml mutation (0 available); any Bmpr1b mutation (37 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
endocrine/exocrine glands
• underdeveloped or absent endometrial glands in 89% of mice
• wide variation in endometrial gland development ranging from a failure of gland formation to inability to develop past a simple epithelium
• failure of cumulus cell expansion preventing fertilization in vivo

reproductive system
• underdeveloped or absent endometrial glands in 89% of mice
• wide variation in endometrial gland development ranging from a failure of gland formation to inability to develop past a simple epithelium
• failure of cumulus cell expansion preventing fertilization in vivo
• the endometrial lining fails to thicken
• impaired pseudopregnancy response
• prolonged di-oestrus phase in 33% of females
• ovulation does occur
• 2 litters, one of 1 pup and the other of 5 pups, were generated by over 30 matings of females and wild-type males over a period of 60 weeks
• oocytes could be fertilized in vitro

limbs/digits/tail
• 28% of adults sustain frequent elbow joint dislocations
• several carpal bones are affected
• by E13.5, but not earlier, the phalanges exhibit decreased cell density and defective proximal phalanx formation
• percentage of proliferating cells is reduced by 33% in the region of the presumptive phalanges at E12.5 and by E13.5, a 62% reduction is seen
• the proximal and middle phalanges are reduced
• the proximal and middle phalanges are fused
• defects are seen in the calcaneus, in which there is an overall reduction in length and size of the ossification center
• initial formation of the digital rays occurs normally, but proliferation of prechondrogenic cells and chondrocyte differentiation in the phalangeal region are reduced

skeleton
• several carpal bones are affected
• by E13.5, but not earlier, the phalanges exhibit decreased cell density and defective proximal phalanx formation
• percentage of proliferating cells is reduced by 33% in the region of the presumptive phalanges at E12.5 and by E13.5, a 62% reduction is seen
• the proximal and middle phalanges are reduced
• the proximal and middle phalanges are fused
• defects are seen in the calcaneus, in which there is an overall reduction in length and size of the ossification center
• 33% of neonates exhibit a reduced 4th sternebra
• chondrogenesis is impaired in the region of the proximal and middle phalanges
• chondrocyte differentiation is defective in the phalanges
• the proximal interphalangeal joint is absent in adults and the phalanges are replaced by a single rudimentary element, while the distal phalanges are unaffected
• 28% of adults sustain frequent elbow joint dislocations


Contributing Projects:
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
05/28/2024
MGI 6.13
The Jackson Laboratory