Phenotypes associated with this allele

• Allele Symbol: Dmrt2^tm1Rjo
• Allele Name: targeted mutation 1, Randy L Johnson
• Allele ID: MGI:3512139
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Dmrt2^tm1Rjo/Dmrt2^tm1Rjo	involves: 129S7/SvEvBrd * C57BL/6	MGI:3613591

Genotype
MGI:3613591

hm1

• Allelic Composition: Dmrt2^tm1Rjo/Dmrt2^tm1Rjo
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

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

mortality/aging

perinatal lethality, complete penetrance ( J:104893 )

• lethality soon after birth

embryo

abnormal somite development ( J:104893 )

• rostral (mature) somites display altered expression of myotomal and dermomyotomal gene markers at E10.5 and E11.5`

• somites lack most or all of the epithelial organization and although there are tissues that resemble myotome and dermomyotome, they are abnormal

• disrupted production of laminin in the dermomyotome

skeleton

small supraoccipital bone ( J:104893 )

abnormal sternum morphology ( J:104893 )

• sternum is malformed, overcalcified, and split and shows disorganized ossification

split sternum ( J:104893 )

rib bifurcation ( J:104893 )

rib fusion ( J:104893 )

truncated ribs ( J:104893 )

abnormal vertebrae morphology ( J:104893 )

abnormal caudal vertebrae morphology ( J:104893 )

• malformations of the coccygeal vertebrae including fusion of vertebrae and irregular intervertebral spaces

caudal vertebral fusion ( J:104893 )

abnormal thoracic vertebrae morphology ( J:104893 )

• malformations of the thoracic vertebrae including abnormal shape of neural spine and processes, fusion, and irregular intervertebral spaces

thoracic vertebral fusion ( J:104893 )

abnormal cervical vertebrae morphology ( J:104893 )

• malformations of the cervical vertebrae including fusion of neural spine and irregular ossification centers and intervertebral spaces

abnormal lumbar vertebrae morphology ( J:104893 )

• lumbar vertebrae show split ossification centers, fusion, and irregular intervertebral spaces

lumbar vertebral fusion ( J:104893 )

abnormal sacral vertebrae morphology ( J:104893 )

• malformations of the sacral vertebrae

abnormal sclerotome morphology ( J:104893 )

• abnormal epithelial organization of the sclerotome

respiratory system

abnormal pulmonary alveolus morphology ( J:104893 )

• alveoli contain few air spaces

atelectasis ( J:104893 )

• lung tissues are collapsed

respiratory distress ( J:104893 )

muscle

abnormal myotome development ( J:104893 )

• mytome and dermomyotome fail to adapt a normal epithelial morphology

abnormal dermomyotome development ( J:104893 )

abnormal myotome morphology ( J:104893 )

• abnormal myotome organization

limbs/digits/tail

abnormal caudal vertebrae morphology ( J:104893 )

• malformations of the coccygeal vertebrae including fusion of vertebrae and irregular intervertebral spaces

caudal vertebral fusion ( J:104893 )

kinked tail ( J:104893 )

craniofacial

small supraoccipital bone ( J:104893 )

reproductive system

reproductive system phenotype ( J:104893 )

N • normal gonadal development