Phenotypes associated with this allele

• Allele Symbol: Serpinh1^tm2Kzn
• Allele Name: targeted mutation 2, Kazuhiro Nagata
• Allele ID: MGI:5505265
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Serpinh1^tm2Kzn/Serpinh1^tm2Kzn Tg(Col2a1-cre)1Bhr/0	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * SJL	MGI:5505276

Genotype
MGI:5505276

cn1

• Allelic Composition: Serpinh1^tm2Kzn/Serpinh1^tm2Kzn; Tg(Col2a1-cre)1Bhr/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * SJL

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

perinatal lethality, complete penetrance ( J:197791 )

• at E18.5 due to severe amnionic bleeding and remaining mice die just before or within 2 hours of birth

skeleton

skeleton phenotype ( J:197791 )

N • mice exhibit normal sized cranial bone

hemarthrosis ( J:197791 )

• bleeding in the shoulder, elbow and knee joints of some mice at E18.5 and P0

abnormal elbow joint morphology ( J:197791 )

• elbow joints lack cavities found in control mice joints; also observed in other joints

abnormal long bone morphology ( J:197791 )

• abnormal at E15.0 and E18.5

• shorter and twisted

abnormal phalanx morphology ( J:197791 )

• uncalcified foreleg phalanges

abnormal humerus morphology ( J:197791 )

• disorganized

short humerus ( J:197791 )

• shorter and twisted compared to in control mice

short radius ( J:197791 )

• shorter and twisted compared to in control mice

short ulna ( J:197791 )

• shorter and twisted compared to in control mice

short femur ( J:197791 )

• shorter and twisted compared to in control mice

short fibula ( J:197791 )

• shorter and twisted compared to in control mice

short tibia ( J:197791 )

• shorter and twisted compared to in control mice

abnormal thoracic cage morphology ( J:197791 )

abnormal spine curvature ( J:197791 )

• severely twisted cervical, lumbar and sacral spine at E14.5 to E18.5 and in neonates

kyphosis ( J:197791 )

abnormal vertebral arch morphology ( J:197791 )

• failure of sacral vertebral arches to fuse

abnormal chondrocyte morphology ( J:197791 )

• chondrocytes exhibit decreased collagen secretion and distended rough endoplasmic reticulum with defects in collagen fibrillar formation compared with control cells

abnormal skeleton development ( J:197791 )

• fewer bones are visible by CT scanning compared with wild-type mice

abnormal rib development ( J:197791 )

• rib cartilage is shorter and twisted compared to in control mice

chondrodystrophy ( J:197791 )

• severe and systemic at E15.0 and E18.5 with reduced collagen accumulation

abnormal bone ossification ( J:197791 )

• impaired ossification of the vertebral bodies of the thoracic, lumbar, sacral and caudal vertebrae

• ectopic ossification of cervical vertebrae

delayed bone ossification ( J:197791 )

• impaired ossification of the vertebral bodies of the thoracic, lumbar, sacral and caudal vertebrae

delayed endochondral bone ossification ( J:197791 )

limbs/digits/tail

abnormal limb morphology ( J:197791 )

• severely twisted and deformed limbs, some of which bleed in the joint region

abnormal phalanx morphology ( J:197791 )

• uncalcified foreleg phalanges

abnormal elbow joint morphology ( J:197791 )

• elbow joints lack cavities found in control mice joints; also observed in other joints

abnormal humerus morphology ( J:197791 )

• disorganized

short humerus ( J:197791 )

• shorter and twisted compared to in control mice

short radius ( J:197791 )

• shorter and twisted compared to in control mice

short ulna ( J:197791 )

• shorter and twisted compared to in control mice

short femur ( J:197791 )

• shorter and twisted compared to in control mice

short fibula ( J:197791 )

• shorter and twisted compared to in control mice

short tibia ( J:197791 )

• shorter and twisted compared to in control mice

respiratory system

abnormal respiratory system morphology ( J:197791 )

• narrow airway

abnormal bronchial cartilage morphology ( J:197791 )

respiratory distress ( J:197791 )

craniofacial

cleft palate ( J:197791 )

short snout ( J:197791 )

growth/size/body

cleft palate ( J:197791 )

short snout ( J:197791 )

decreased birth weight ( J:197791 )

cardiovascular system

hemorrhage ( J:197791 )

• severe amnionic bleeding at E18.5 in some mice

hemarthrosis ( J:197791 )

• bleeding in the shoulder, elbow and knee joints of some mice at E18.5 and P0

embryo

persistence of notochord tissue ( J:197791 )

• the notochords remains as rod-like axial structures at E14.5

digestive/alimentary system

cleft palate ( J:197791 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
osteogenesis imperfecta type 10		DOID:0110346	OMIM:613848	J:197791