All Phenotypes Bmper<tm1Ysas> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Bmper^tm1Ysas/Bmper^tm1Ysas	involves: C57BL/6 * CBA	MGI:3692272
cx2	Bmp4^tm2Blh/Bmp4⁺ Bmper^tm1Ysas/Bmper^tm1Ysas	involves: 129S6/SvEvTac * C57BL/6 * CBA	MGI:3692274
cx3	Bmp4^tm2Blh/Bmp4⁺ Bmper^tm1Ysas/Bmper⁺	involves: 129S6/SvEvTac * C57BL/6 * CBA	MGI:3692275
cx4	Bmper^tm1Ysas/Bmper^tm1Ysas Kcp^tm1Ysas/Kcp^tm1Ysas	involves: C57BL/6 * CBA	MGI:3692277
cx5	Bmper^tm1Ysas/Bmper^tm1Ysas Kcp^tm1Ysas/Kcp⁺	involves: C57BL/6 * CBA	MGI:3692281

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

mortality/aging

neonatal lethality, complete penetrance ( J:115338 )

• die soon after birth, after breathing several times

growth/size/body

decreased body length ( J:115338 )

• short trunk at P0

decreased fetal size ( J:115338 )

• smaller at E15.5

skeleton

abnormal cranium morphology ( J:115338 )

wide metopic suture ( J:115338 )

• exhibit a wider unossified area of the metopic suture at P0

basisphenoid bone foramen ( J:115338 )

• exhibit a cavity in the basisphenoid bone

small interparietal bone ( J:115338 )

small supraoccipital bone ( J:115338 )

absent retrotympanic process ( J:115338 )

• exhibit loss of the retrotympanic process of the squamosal bone

absent deltoid tuberosity ( J:115338 )

abnormal scapula morphology ( J:115338 )

scapular bone foramen ( J:115338 )

• scapula has a hole in the middle or is small at P0

small scapula ( J:115338 )

• scapula is small or has a hole in the middle at P0

abnormal pubic symphysis morphology ( J:115338 )

• diastasis of the pubic symphysis (unclosed)

abnormal pubis body morphology ( J:115338 )

• exhibit smaller body of the pubis and unclosed symphysis

decreased rib number ( J:115338 )

• absence of the 13th ribs

abnormal vertebrae development ( J:115338 )

abnormal vertebral arch development ( J:115338 )

• the cell-dense region corresponding to the dorsal vertebral arch is replaced with mesenchymal tissues at E14.5

abnormal vertebral body development ( J:115338 )

• vertebral bodies show reduced bone formation throughout the rostrocaudal axis at P0

• vertebral bodies show a reduction in the amount of cartilage matrix present in the extracellular space at E14.5

absent vertebral arch ( J:115338 )

• the vertebral arches from the cerival to the sacral regions are largely missing at P0

small vertebral body ( J:115338 )

abnormal cartilage morphology ( J:115338 )

abnormal Reichert's cartilage morphology ( J:115338 )

• small hyoid cartilage at P0

small cricoid cartilage ( J:115338 )

• small cricoid cartilage at P0

small thyroid cartilage ( J:115338 )

• small thyroid cartilage at P0

absent tracheal cartilage rings ( J:115338 )

• lack tracheal cartilage at P0

abnormal cartilage development ( J:115338 )

• exhibit a significant decrease in the postmitotic mature cartilage cells in vertebral bodies

renal/urinary system

abnormal kidney morphology ( J:115338 )

• exhibit a minor disorganization of the cortex-medullar arrangement

decreased renal glomerulus number ( J:115338 )

• number of glomeruli is reduced by 56%

small kidney ( J:115338 )

• kidney size is reduced at E14.5, E18.5 and at birth

decreased nephron number ( J:115338 )

• number of Pax2-positive masses of condensed nephrogenic mesenchymes is reduced at E14.5 and the number of nephrons is reduced at P0

limbs/digits/tail

absent deltoid tuberosity ( J:115338 )

short tail ( J:115338 )

• short curved tail at P0

curly tail ( J:115338 )

• short curved tail at P0

nervous system

exencephaly ( J:115338 )

• exhibit a low penetrance (7%) of exencephaly at E15.5, showing a large subcutaneous lucent space in the dorsal midline

craniofacial

abnormal cranium morphology ( J:115338 )

wide metopic suture ( J:115338 )

• exhibit a wider unossified area of the metopic suture at P0

basisphenoid bone foramen ( J:115338 )

• exhibit a cavity in the basisphenoid bone

small interparietal bone ( J:115338 )

small supraoccipital bone ( J:115338 )

absent retrotympanic process ( J:115338 )

• exhibit loss of the retrotympanic process of the squamosal bone

abnormal Reichert's cartilage morphology ( J:115338 )

• small hyoid cartilage at P0

respiratory system

small cricoid cartilage ( J:115338 )

• small cricoid cartilage at P0

small thyroid cartilage ( J:115338 )

• small thyroid cartilage at P0

absent tracheal cartilage rings ( J:115338 )

• lack tracheal cartilage at P0

Allelic Composition	Bmp4^tm2Blh/Bmp4⁺ Bmper^tm1Ysas/Bmper^tm1Ysas
Genetic Background	involves: 129S6/SvEvTac * C57BL/6 * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp4^tm2Blh mutation (1 available); any Bmp4 mutation (21 available)
Bmper^tm1Ysas mutation (1 available); any Bmper mutation (47 available)

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

skeleton

abnormal vertebral arch development ( J:115338 )

• exhibit suppression of vertebral arch development, a more severe defect than seen in single Bmper homozygotes

abnormal vertebral body development ( J:115338 )

• exhibit a reduction in the ossification of vertebral bodies that is more severe than seen in single Bmper homozygotes

small vertebral body ( J:115338 )

• exhibit a reduction in size of the vertebral body that is more severe than seen in single Bmper homozygotes

vision/eye

microphthalmia ( J:115338 )

• exhibit an increase in the frequency of microphthalmia with 100% of double mutants showing the phenotype compared to 18% of double heterozygous mutants

Allelic Composition	Bmp4^tm2Blh/Bmp4⁺ Bmper^tm1Ysas/Bmper⁺
Genetic Background	involves: 129S6/SvEvTac * C57BL/6 * CBA

Find Mice

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

vision/eye

microphthalmia ( J:115338 )

• 18% exhibit microphthalmia

skeleton

skeleton phenotype ( J:115338 )

N	• do not exhibit a vertebral phenotype

Allelic Composition	Bmper^tm1Ysas/Bmper^tm1Ysas Kcp^tm1Ysas/Kcp^tm1Ysas
Genetic Background	involves: C57BL/6 * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmper^tm1Ysas mutation (1 available); any Bmper mutation (47 available)
Kcp^tm1Ysas mutation (1 available); any Kcp mutation (58 available)

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

renal/urinary system

decreased renal glomerulus number ( J:115338 )

• exhibit a further reduction in the glomerulus number compared to single Bmper homozygotes

abnormal kidney corticomedullary boundary morphology ( J:115338 )

• exhibit a strong disorganization of the cortex-medullar arrangement with no clear border in between

small kidney ( J:115338 )

• exhibit a further reduction in kidney size than seen in single Bmper homozygotes

skeleton

abnormal skeleton morphology ( J:115338 )

• exhibit skeletal phenotypes similar to that seen in single homozygous Bmper mutants that are not enhanced by the deletion of Crim2

Allelic Composition	Bmper^tm1Ysas/Bmper^tm1Ysas Kcp^tm1Ysas/Kcp⁺
Genetic Background	involves: C57BL/6 * CBA

Find Mice

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

renal/urinary system

decreased renal glomerulus number ( J:115338 )

• exhibit a further reduction in the glomerulus number compared to single Bmper homozygotes

abnormal kidney corticomedullary boundary morphology ( J:115338 )

• exhibit a strong disorganization of the cortex-medullar arrangement with no clear border in between

small kidney ( J:115338 )

• exhibit a further reduction in kidney size than seen in single Bmper homozygotes

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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