Phenotypes Associated with This Genotype

Genotype
MGI:3047068

• Allelic Composition: Grem1^tm1Azun/Grem1^tm1Azun
• Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * CD-1)

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

mortality/aging

neonatal lethality, complete penetrance ( J:90991 )

• homozygous mutants die shortly after birth

cellular

increased apoptosis ( J:90991 )

• massive cell death is seen in the core mesenchyme of the limb buds by E11.0

increased metanephric mesenchyme apoptosis ( J:90991 )

• massive cell death is seen in the metanephric mesenchyme by E11.0

homeostasis/metabolism

cyanosis ( J:90991 )

limbs/digits/tail

oligodactyly ( J:90991 )

• the number of digits is reduced and posterior identity and soft tissue webbing are lost

abnormal limb long bone morphology ( J:90991 )

• the ulna and radius fuse during the onset of ossification

• only one skeletal element forms in hind limbs

fused metacarpal bones ( J:90991 )

• metacarpal fusions are seen

abnormal limb development ( J:90991 )

• the zeugopods are abnormal and the autopods are truncated

abnormal apical ectodermal ridge morphology ( J:90991 )

• the apical ectodermal ridge morphology is disrupted

abnormal limb mesenchyme morphology ( J:90991 )

• massive cell death is seen in the core mesenchyme of the limb buds by E11.0

renal/urinary system

abnormal metanephric mesenchyme morphology ( J:90991 )

• failure to induce condensation of the metanephric mesenchyme

increased metanephric mesenchyme apoptosis ( J:90991 )

• massive cell death is seen in the metanephric mesenchyme by E11.0

absent metanephros ( J:90991 )

absent kidney ( J:90991 )

• bilateral renal agenesis is seen at birth; however, gonads and adrenal glands develop normally

• the kidney phenotype is fully penetrant on a 129S or CD1 background

absent ureter ( J:90991 )

• bilateral agenesis of the ureters is seen at birth

abnormal urinary bladder morphology ( J:90991 )

• the neonatal bladder is not filled

impaired branching involved in ureteric bud morphogenesis ( J:90991 )

• the ureteric bud does not branch at E11.5

abnormal ureteric bud elongation ( J:90991 )

• initiation of ureteric bud growth is completely blocked

abnormal ureteric bud invasion ( J:90991 )

• invasion of the metanephric mesenchyme by the ureteric bud fails to occur

respiratory system

abnormal lung epithelium morphology ( J:90991 )

• the airway epithelium remains multi-layered unlike in wild-type embryos

abnormal pulmonary alveolus morphology ( J:90991 )

• the number of differentiated alveoli are reduced

respiratory distress ( J:90991 )

• neonatal dyspnea

skeleton

abnormal limb long bone morphology ( J:90991 )

• the ulna and radius fuse during the onset of ossification

• only one skeletal element forms in hind limbs

fused metacarpal bones ( J:90991 )

• metacarpal fusions are seen

embryo

increased metanephric mesenchyme apoptosis ( J:90991 )

• massive cell death is seen in the metanephric mesenchyme by E11.0

abnormal apical ectodermal ridge morphology ( J:90991 )

• the apical ectodermal ridge morphology is disrupted

abnormal limb mesenchyme morphology ( J:90991 )

• massive cell death is seen in the core mesenchyme of the limb buds by E11.0