Phenotypes associated with this allele

• Allele Symbol: Hoxb4^tm1Nrm
• Allele Name: targeted mutation 1, Nancy R Manley
• Allele ID: MGI:2388364
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hoxb4^tm1Nrm/Hoxb4^tm1Nrm	involves: 129S7/SvEvBrd * C57BL/6	MGI:2673175
ht2	Hoxb4^tm1Nrm/Hoxb4^+	involves: 129S7/SvEvBrd * C57BL/6	MGI:3722174
cx3	Hoxb2^tm1Mrc/Hoxb2^+ Hoxb4^tm1Nrm/Hoxb4^+	involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6	MGI:3722150

Genotype
MGI:2673175

hm1

• Allelic Composition: Hoxb4^tm1Nrm/Hoxb4^tm1Nrm
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:37682 , J:71389 )

• sternal defects lead to 100% lethality (J:37682)

• 16 of 18 mice are dead or dying immediately after birth (J:71389)

cardiovascular system

abnormal heart morphology ( J:71389 )

• the severity of cardiac defects is associated with the degree of body wall closure

abnormal heart position or orientation ( J:71389 )

• the heart is anteriorly displaced and rotated along the dorsal-ventral axis such that the aorta is dorsal to the ventricles

thin interventricular septum ( J:71389 )

• at E15.5, the ventricular septum is thin and poorly developed

thin ventricular wall ( J:71389 )

• at E15.5, the ventricle wall is thin and poorly developed

dilated heart ventricle ( J:71389 )

• at E15.5

absent pericardium ( J:71389 )

• some mice lack a pericardium

skeleton

abnormal sternum morphology ( J:37682 , J:71389 )

• all mice have severe sternal defects (J:37682)

• authors state that mice present with cervical vertebrae and sternum defects as severe as observed in Hoxb4^tm1Bay (J:71389)

split sternum ( J:71389 )

• at E14.5, all 4 mice observed have unfused sternums

• at E15.5, 36% of mice are dead and have unfused sternums

• 16 of 16 mice that die at birth have unfused sternums

abnormal cervical vertebrae morphology ( J:71389 )

• authors state that mice present with cervical vertebrae and sternum defects as severe as observed in Hoxb4^tm1Bay

growth/size/body

abnormal body wall morphology ( J:71389 )

• at E11.5, the primary body wall is thinner than in wild-type mice

• at E14.5, 3 of 4 mice have openings in the chest wall

abnormal abdominal wall morphology ( J:71389 )

• umbilical opening is anteriorly displaced, poorly organized and unusually large

• the anterior posterior abdominal wall length is shortened

abnormal ventral body wall morphology ( J:37682 , J:71389 )

• at E14.5, the ventral body wall fails to close (J:37682)

• at E13, the ventral body wall is extremely thin laterally compared to in wild-type mice (J:71389)

• at E13.5, 9 of 14 mice have thin or open ventral body walls (J:71389)

• at E15.5, mice with openings in the body wall die (J:71389)

decreased body size ( J:71389 )

• 3 mice that died in utero were small in size and pale compared to littermates

respiratory system

respiratory distress ( J:71389 )

• at birth some mice die of respiratory distress

homeostasis/metabolism

edema ( J:71389 )

• at E14.5, more than half of mice are edematous

muscle

diaphragmatic hernia ( J:71389 )

• some newborns exhibit a diaphragmatic hernia and general disorganization of internal organs

integument

pallor ( J:71389 )

• 3 mice that died in utero were small in size and pale compared to littermates

Genotype
MGI:3722174

ht2

• Allelic Composition: Hoxb4^tm1Nrm/Hoxb4⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

growth/size/body

abnormal body wall morphology ( J:71389 )

• at E13, the secondary body wall components (sternal rudiments, ribs and musculature) are far apart

Genotype
MGI:3722150

cx3

• Allelic Composition: Hoxb2^tm1Mrc/Hoxb2⁺; Hoxb4^tm1Nrm/Hoxb4⁺
• Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6

mortality/aging

neonatal lethality, incomplete penetrance ( J:37682 )

• 6 of 9 mice die at birth

skeleton

abnormal sternebra morphology ( J:37682 )

• sternal defects are intermediate between Hoxb2^tm1Mrc and Hoxb4^tm1Nrm homozygotes

• 3 of 9 mice lacked the pericardial fold covering the gap between sternal bands

cervical vertebral transformation ( J:37682 )

• 7 of 8 mice have C2 to C1 transformation

respiratory system

respiratory distress ( J:37682 )

• the remaining 3 of 9 mice exhibit respiratory distress